KRT6A

Summary

Gene Symbol: KRT6A
Description: keratin 6A
Alias: CK-6C, CK-6E, CK6A, CK6C, CK6D, K6A, K6C, K6D, KRT6C, KRT6D, PC3, keratin, type II cytoskeletal 6C, cytokeratin 6A, cytokeratin 6C, cytokeratin 6D, keratin 6A, , type II, keratin 6A, type II, keratin, epidermal type II, K6A, keratin, type II cytoskeletal 6A, type-II keratin Kb6
Species: human
Products:     KRT6A

Top Publications

  1. Fang X, Ni N, Lydon J, Ivanov I, Bayless K, Rijnkels M, et al. Enhancer of Zeste 2 Polycomb Repressive Complex 2 Subunit Is Required for Uterine Epithelial Integrity. Am J Pathol. 2019;: pubmed publisher
    ..The abnormal epithelium expressed basal cell markers, including protein 63, cytokeratin 5 (KRT5), KRT6A, and KRT14...
  2. Karlsson A, Cirenajwis H, Ericson Lindquist K, Brunnström H, Reuterswärd C, Jonsson M, et al. A combined gene expression tool for parallel histological prediction and gene fusion detection in non-small cell lung cancer. Sci Rep. 2019;9:5207 pubmed publisher
    ..carcinoma (LCNEC) histology, based on NanoString expression of 11 (CHGA, SYP, CD56, SFTPG, NAPSA, TTF-1, TP73L, KRT6A, KRT5, KRT40, KRT16) relevant genes for IHC-based NSCLC histology classification...
  3. Wang F, Chen S, Liu H, Parent C, Coulombe P. Keratin 6 regulates collective keratinocyte migration by altering cell-cell and cell-matrix adhesion. J Cell Biol. 2018;217:4314-4330 pubmed publisher
    ..We show that myosin IIA interacts with K6a/K6b, that its levels are markedly reduced in Krt6a/Krt6b-null keratinocytes, and that inhibiting myosin ATPase activity normalizes the enhanced migration ..
  4. Hintze J, Tchoukalova Y, Sista R, Shah M, Zhang N, Lott D. Development of xeno-free epithelial differentiation media for adherent, non-expanded adipose stromal vascular cell cultures. Biochem Biophys Res Commun. 2018;503:3128-3133 pubmed publisher
    ..In general, the expression of basal cell markers (COL17A1, DSG3, ITGA6, KRT6A, LOXL2) and secreted mucous proteins (PLUNC, MUC5B, SCGB2A1) was upregulated...
  5. Jiráková A, Rajská L, Rob F, Džambová M, Sečníková Z, Göpfertová D, et al. First case of pachyonychia congenita in the Czech Republic. Dermatol Ther. 2015;28:10-2 pubmed publisher
    ..It is associated with a mutation in one of five keratin genes, KRT6A, KRT6B, KRT6C, KRT16, or KRT17...
  6. Duverger O, Cross M, Smith F, Morasso M. Enamel anomalies in a pachyonychia congenita patient with a mutation in KRT16. J Invest Dermatol. 2018;: pubmed publisher
    Pachyonychia congenita (PC) is a cutaneous disorder caused by a mutation in the KRT6A, KRT6B, KRT6C, KRT16 or KRT17 genes that encode a subset of epithelial keratins...
  7. Duverger O, Carlson J, Karacz C, SCHWARTZ M, Cross M, Marazita M, et al. Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay. PLoS Genet. 2018;14:e1007168 pubmed publisher
    ..PC is caused by mutations in KRT6A, KRT6B, KRT6C, KRT16, and KRT17, a set of keratin genes expressed in the nail bed, palmoplantar epidermis, oral mucosal ..
  8. Cui C, Klar J, Georgii Heming P, Fröjmark A, Baig S, Schlessinger D, et al. Frizzled6 deficiency disrupts the differentiation process of nail development. J Invest Dermatol. 2013;133:1990-7 pubmed publisher
    ..Among them, four hard Krts, Krt86, Krt81, Krt34, and Krt31; two epithelial Krts, Krt6a and Krt6b; and Tgm 1 were already known to be involved in nail abnormalities when dysregulated...
  9. Gužvić M, Braun B, Ganzer R, Burger M, Nerlich M, Winkler S, et al. Combined genome and transcriptome analysis of single disseminated cancer cells from bone marrow of prostate cancer patients reveals unexpected transcriptomes. Cancer Res. 2014;74:7383-94 pubmed publisher
    ..Transcriptomes of all cells were examined for the expression of EPCAM, KRT8, KRT18, KRT19, KRT14, KRT6a, KRT5, KLK3 (PSA), MAGEA2, MAGEA4, PTPRC (CD45), CD33, CD34, CD19, GYPC, SCL4A1 (band 3), and HBA2...

More Information

Publications67

  1. Holloway K, Sinha V, Toneff M, Bu W, Hilsenbeck S, Li Y. Krt6a-positive mammary epithelial progenitors are not at increased vulnerability to tumorigenesis initiated by ErbB2. PLoS ONE. 2015;10:e0117239 pubmed publisher
    ..Here, we used retrovirus to introduce ErbB2 into the Krt6a-positive mammary progenitor subset of the luminal epithelium and, for comparison, into the mammary luminal ..
  2. Gönül M, Gül Ã, Kılıç A, Soylu S, Koçak O, Demiriz M. A case of pachyonychia congenita with unusual manifestations: an unusual type or a new syndrome?. Int J Dermatol. 2015;54:334-7 pubmed publisher
    ..The psychiatric examination revealed mild mental retardation. Keratin gene (KRT6a, KRT6b, KRT16, and KRT17) mutations for pachyonychia congenita were negative...
  3. Kim Y, Kim S. Machine learning identifies a core gene set predictive of acquired resistance to EGFR tyrosine kinase inhibitor. J Cancer Res Clin Oncol. 2018;144:1435-1444 pubmed publisher
    ..learning method, we developed an extremely parsimonious model with generalized predictors (DDK3, CPS1, MOB3B, KRT6A), which has excellent prediction performance on blind cohorts for AR to EGFR-TKIs (gefitinib, erlotinib and ..
  4. Rorke E, Adhikary G, Young C, Rice R, Elias P, Crumrine D, et al. Structural and biochemical changes underlying a keratoderma-like phenotype in mice lacking suprabasal AP1 transcription factor function. Cell Death Dis. 2015;6:e1647 pubmed publisher
    ..keratins (Krt1, Krt5 and Krt10) is reduced, but incorporation of hyperproliferation-associated epidermal keratins (Krt6a, Krt6b and Krt16) is increased...
  5. Sun B, Bai Y, Zhang L, Gong L, Qi X, Li H, et al. Quantitative Proteomic Profiling the Molecular Signatures of Annexin A5 in Lung Squamous Carcinoma Cells. PLoS ONE. 2016;11:e0163622 pubmed publisher
    ..Multiple central nodes, namely HSPA5, FN1, PDIA6, ENO1, ALDOA, JUP and KRT6A appeared to occupy regulatory nodes in the protein-protein networks upon ANXA5 modulation...
  6. Guo Z, Hu Q, Tian J, Yan L, Jing C, Xie H, et al. Proteomic profiling reveals candidate markers for arsenic-induced skin keratosis. Environ Pollut. 2016;218:34-38 pubmed publisher
    ..The expression of keratin 6c (KRT6C) and fatty acid binding protein 5 (FABP5) were significantly increased...
  7. Hickerson R, Speaker T, Lara M, González González E, Flores M, Contag C, et al. Non-Invasive Intravital Imaging of siRNA-Mediated Mutant Keratin Gene Repression in Skin. Mol Imaging Biol. 2016;18:34-42 pubmed publisher
    ..A siRNA targeting a single nucleotide, PC-relevant mutation inhibits K6a expression and has been evaluated in the clinic with encouraging results...
  8. Cao Y, Li R, Li Y, Zhang T, Wu N, Zhang J, et al. Identification of Transcription Factor-Gene Regulatory Network in Acute Myocardial Infarction. Heart Lung Circ. 2017;26:343-353 pubmed publisher
    ..Verification by qRT-PCR revealed that EHF, KRT6A and DSG3 were significantly up-regulated, while CACNG4 was significantly down-regulated in AMI...
  9. Holloway K, Sinha V, Bu W, Toneff M, Dong J, Peng Y, et al. Targeting Oncogenes into a Defined Subset of Mammary Cells Demonstrates That the Initiating Oncogenic Mutation Defines the Resulting Tumor Phenotype. Int J Biol Sci. 2016;12:381-8 pubmed publisher
    ..and distinct subset of the mouse mammary epithelium defined by the expression of the progenitor marker keratin 6a (Krt6a), and compared the phenotypes of the resulting mammary tumors...
  10. Rice R, Durbin Johnson B, Salemi M, SCHWARTZ M, Rocke D, Phinney B. Proteomic profiling of Pachyonychia congenita plantar callus. J Proteomics. 2017;165:132-137 pubmed publisher
    ..Pachyonychia congenita subjects were sampled who exhibited a mutation in KRT6A, KRT6B, KRT6C, KRT16 or KRT17, and the proteins were digested and analyzed by tandem mass spectrometry...
  11. Lopez Sanchez L, Jurado Gámez B, Feu Collado N, Valverde A, Cañas A, Fernández Rueda J, et al. Exhaled breath condensate biomarkers for the early diagnosis of lung cancer using proteomics. Am J Physiol Lung Cell Mol Physiol. 2017;313:L664-L676 pubmed publisher
    ..Cytokeratins (KRTs) were the most abundant proteins in EBC samples, and levels of KRT6A, KRT6B, and KRT6C isoforms were significantly higher in samples from LC patients (P = 0.0031, 0.0011, and 0...
  12. Luo S, Luo Q, Zhang H, Wan C. A novel H1 mutation in keratin 6a in an infant with pachyonychia congenita. Indian J Dermatol Venereol Leprol. 2015;81:385-7 pubmed publisher
    ..We report a sporadic novel H1 mutation in the KRT6A gene (c. 428G>A/p.Ser143Asn) in a Chinese infant patient...
  13. Ricciardelli C, Lokman N, Pyragius C, Ween M, Macpherson A, Ruszkiewicz A, et al. Keratin 5 overexpression is associated with serous ovarian cancer recurrence and chemotherapy resistance. Oncotarget. 2017;8:17819-17832 pubmed publisher
    ..KRT5 and KRT6 (KRT6A, KRT6B & KRT6C) gene expression was assessed in publically available serous ovarian cancer data sets, ovarian cancer cell lines ..
  14. Rojas P, May M, Sequeira G, Elia A, Alvarez M, Martinez P, et al. Progesterone Receptor Isoform Ratio: A Breast Cancer Prognostic and Predictive Factor for Antiprogestin Responsiveness. J Natl Cancer Inst. 2017;109: pubmed publisher
    ..03), and decreased total PR ( P?=? .004) compared with PRA-H tumors. MUC-2 ( P?<? .001) and KRT6A ( P?=? .02) were also overexpressed in PRB-H tumors...
  15. Pan B, Byrnes K, Schwartz M, Hansen C, Campbell C, Krupiczojc M, et al. Peripheral neuropathic changes in pachyonychia congenita. Pain. 2016;157:2843-2853 pubmed
    ..Plantar biopsies from 10 genetically confirmed patients with PC (with a mutation in KRT6A) were performed at the ball of the foot (affected skin) and the arch (unaffected) and were compared to biopsies ..
  16. Wallis T, Poole C, Hoggart B. Can skin disease cause neuropathic pain? A study in pachyonychia congenita. Clin Exp Dermatol. 2016;41:26-33 pubmed publisher
    ..PC) is a rare skin disorder caused by an autosomal dominant mutation in one of five genes encoding keratin (K6a, K6b, K6c, K16 or K17; each defining one PC subtype)...
  17. Bai Z, Feng Y, Tan S, Wang X, Xiao S, Wang H, et al. Mutations of KRT6A are more frequent than those of KRT16 in pachyonychia congenita type 1: report of a novel and a recently reported mutation in two unrelated Chinese families. Br J Dermatol. 2008;159:238-40 pubmed publisher
  18. Ku N, Omary M. Phosphorylation of human keratin 8 in vivo at conserved head domain serine 23 and at epidermal growth factor-stimulated tail domain serine 431. J Biol Chem. 1997;272:7556-64 pubmed
    ..Furthermore, K8 Ser-431 phosphorylation occurs after EGF stimulation and during mitotic arrest and is likely to be mediated by mitogen-activated protein and cdc2 kinases, respectively. ..
  19. Kubo A, Oura Y, Hirano T, Aoyama Y, Sato S, Nakamura K, et al. Collapse of the keratin filament network through the expression of mutant keratin 6c observed in a case of focal plantar keratoderma. J Dermatol. 2013;40:553-7 pubmed publisher
    ..Dominant-negative mutations in any of the four identified keratin genes, KRT6A, KRT6B, KRT16 or KRT17, lead to pachyonychia congenita...
  20. Inanc M, Ozkan M, Karaca H, Berk V, Bozkurt O, Duran A, et al. Cytokeratin 5/6, c-Met expressions, and PTEN loss prognostic indicators in triple-negative breast cancer. Med Oncol. 2014;31:801 pubmed publisher
  21. Tam C, Mun J, Evans D, Fleiszig S. Cytokeratins mediate epithelial innate defense through their antimicrobial properties. J Clin Invest. 2012;122:3665-77 pubmed publisher
    ..Glycine-rich C-terminal fragments derived from human cytokeratin 6A were identified in bactericidal lysate fractions of human corneal epithelial cells...
  22. Lv Y, Yang S, Zhang Z, Cui Y, Quan C, Zhou F, et al. Novel and recurrent keratin 6A (KRT6A) mutations in Chinese patients with pachyonychia congenita type 1. Br J Dermatol. 2009;160:1327-9 pubmed publisher
  23. Panzegrau B, Gordon L, Goudy G. Outpatient therapeutic 131I for thyroid cancer. J Nucl Med Technol. 2005;33:28-30 pubmed
    ..If state and federal guidelines for releasing patients are followed, and if patients' living conditions are adequately assessed, outpatient treatment with high-dose 131I is safe and cost effective and improves patient satisfaction. ..
  24. Bai Z, Feng Y, Tan S, Kang R, Wang X, He D. [Two mutations of the KRT6A gene in Chinese patients with pachyonychia congenita type I]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009;26:514-7 pubmed publisher
    ..The whole coding region of the KRT16 and KRT6A genes were amplified by long-range polymerase chain reaction (PCR)...
  25. Nishizawa M, Izawa I, Inoko A, Hayashi Y, Nagata K, Yokoyama T, et al. Identification of trichoplein, a novel keratin filament-binding protein. J Cell Sci. 2005;118:1081-90 pubmed
    ..tested using two-hybrid methods, trichoplein interacted significantly with K16 and K18, and to some extent with K5, K6a, K8 and K14...
  26. Haber R, Drummond D. Pachyonychia congenita with laryngeal obstruction. Pediatr Dermatol. 2011;28:429-32 pubmed publisher
    ..This report is the first case of pachyonychia congenita with laryngeal obstruction in which the gene mutation has been established (a deletional mutation in K6a), confirming that laryngeal obstruction can occur in PC-1.
  27. Bowden P, Haley J, Kansky A, Rothnagel J, Jones D, Turner R. Mutation of a type II keratin gene (K6a) in pachyonychia congenita. Nat Genet. 1995;10:363-5 pubmed
    ..detect K16 or K17 mutations in PC families from Slovenia, we have found a heterozygous deletion in a K6 isoform (K6a) in the affected members of one family...
  28. Hyun T, Barnes M, Tabatabai Z. The diagnostic utility of D2-40, calretinin, CK5/6, desmin and MOC-31 in the differentiation of mesothelioma from adenocarcinoma in pleural effusion cytology. Acta Cytol. 2012;56:527-32 pubmed publisher
    ..MOC-31 was both highly sensitive and specific for detecting adenocarcinoma and was useful as part of a panel of stains in differentiating cells of mesothelial origin from adenocarcinoma. ..
  29. Du Z, Xu C, Zhao Y, Liu W, Chen X, Chen C, et al. Two novel de novo mutations of KRT6A and KRT16 genes in two Chinese pachyonychia congenita pedigrees with fissured tongue or diffuse plantar keratoderma. Eur J Dermatol. 2012;22:476-80 pubmed publisher
    Mutations in the KRT6A or KRT16 gene cause pachyonychia congenita type 1 (PC-1), while mutations in KRT16 or KRT6C underlie focal palmoplantar keratoderma (FPPK)...
  30. Takahashi K, Paladini R, Coulombe P. Cloning and characterization of multiple human genes and cDNAs encoding highly related type II keratin 6 isoforms. J Biol Chem. 1995;270:18581-92 pubmed
    ..genes encoding K6 protein isoforms in the human genome, although only a partial cDNA clone is available for K6a, the dominant human K6 isoform in skin epithelial tissues (Tyner, A., and Fuchs, E. (1986) J. Cell Biol...
  31. Spaunhurst K, Hogendorf A, Smith F, Lingala B, Schwartz M, Cywińska Bernas A, et al. Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16. Br J Dermatol. 2012;166:875-8 pubmed publisher
    ..PC) is an autosomal dominant, very rare keratin disorder caused by mutations in any of at least four genes (KRT6A, KRT6B, KRT16 or KRT17), which can lead to hypertrophic nail dystrophy and palmoplantar keratoderma, among other ..
  32. Cao Y, Hickerson R, Seegmiller B, Grapov D, Gross M, Bessette M, et al. Gene expression profiling in pachyonychia congenita skin. J Dermatol Sci. 2015;77:156-65 pubmed publisher
    Pachyonychia congenita (PC) is a skin disorder resulting from mutations in keratin (K) proteins including K6a, K6b, K16, and K17. One of the major symptoms is painful plantar keratoderma...
  33. Dereure O. [Keratin k6c mutations in focal palmoplantar keratoderma]. Ann Dermatol Venereol. 2010;137:423-4 pubmed publisher
  34. Trost A, Desch P, Wally V, Haim M, Maier R, Reitsamer H, et al. Aberrant heterodimerization of keratin 16 with keratin 6A in HaCaT keratinocytes results in diminished cellular migration. Mech Ageing Dev. 2010;131:346-53 pubmed publisher
    ..Transient overexpression of K6A in K16-overexpressing keratinocytes partially corrected the cell-migration defect...
  35. Song J, Zhang H, Wang Z, Xu W, Zhong L, Cao J, et al. The Role of FABP5 in Radiation-Induced Human Skin Fibrosis. Radiat Res. 2017;: pubmed publisher
    ..The differentially expressed proteins included keratins (KRT5, KRT6A, KRT16 and KRT17), caspase-14, fatty acid-binding protein 5 (FABP5), SLC2A14 and resistin...
  36. Forrest C, Casey G, Mordaunt D, Thompson E, Gordon L. Pachyonychia Congenita: A Spectrum of KRT6a Mutations in Australian Patients. Pediatr Dermatol. 2016;33:337-42 pubmed publisher
    ..It is associated with mutations in five differentiation-specific keratin genes, KRT6A, KRT6B, KRT6C, KRT16, or KRT17. Living with Pachyonychia Congenita can be isolating...
  37. Li Y, Zhou G, Zhang R, Guo J, Li C, Martin G, et al. Comparative proteomic analyses using iTRAQ-labeling provides insights into fiber diversity in sheep and goats. J Proteomics. 2018;172:82-88 pubmed publisher
    ..Proteins with different abundance are mainly keratin or keratin-associated proteins (KRTAP11-1, KRT6A, KRT38), or are related to hair growth (DSC2, DSG3, EEF2, CALML5, TCHH, SELENBP1) and fatty acid synthesis (FABP4, ..
  38. Kouklis P, Hutton E, Fuchs E. Making a connection: direct binding between keratin intermediate filaments and desmosomal proteins. J Cell Biol. 1994;127:1049-60 pubmed
    ..This finding might have important implications for understanding a recent point mutation found within this binding site in a family with a blistering skin disorder. ..
  39. Hanukoglu I, Fuchs E. The cDNA sequence of a Type II cytoskeletal keratin reveals constant and variable structural domains among keratins. Cell. 1983;33:915-24 pubmed
    ..Thus the size heterogeneity among keratins appears to be a result of differences in the length of the terminal ends rather than the structurally conserved central region. ..
  40. Chiriac A, Rusu C, Murgu A, Chiriac A, Wilson N, Smith F. First Report of Pachyonychia Congenita Type PC-K6a in the Romanian Population. Maedica (Buchar). 2017;12:123-126 pubmed
    ..Heterozygous mutations, predominantly missense mutations, in any one of five keratin genes, KRT6A, KRT6B, KRT6C, KRT16, or KRT17 cause PC...
  41. Tyner A, Eichman M, Fuchs E. The sequence of a type II keratin gene expressed in human skin: conservation of structure among all intermediate filament genes. Proc Natl Acad Sci U S A. 1985;82:4683-7 pubmed
  42. Rogers M, Edler L, Winter H, Langbein L, Beckmann I, Schweizer J. Characterization of new members of the human type II keratin gene family and a general evaluation of the keratin gene domain on chromosome 12q13.13. J Invest Dermatol. 2005;124:536-44 pubmed
    ..the current reference sequence of the human genome and the previously described gene/cDNA sequences for K6c, K6d, K6e, K6f, K6h are investigated, leading to the conclusion that K6c, K6d as well as K6e, K6f are probably ..
  43. Liao H, Sayers J, Wilson N, Irvine A, Mellerio J, Baselga E, et al. A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita. J Dermatol Sci. 2007;48:199-205 pubmed
    ..Multiple steatocystomas that develop during puberty are a useful feature distinguishing PC-2 from PC-1. At the molecular level it has been shown that mutations in keratin K6a or K16 cause PC-1 whereas those in K6b or K17 lead to PC-2.
  44. Hickerson R, Leake D, Pho L, Leachman S, Kaspar R. Rapamycin selectively inhibits expression of an inducible keratin (K6a) in human keratinocytes and improves symptoms in pachyonychia congenita patients. J Dermatol Sci. 2009;56:82-8 pubmed publisher
    ..The skin disorder pachyonychia congenita (PC) is caused by mutations in the inducible keratins (K) including K6a, K6b, K16 and K17...
  45. Kohli N. Pachyonychia congenita: a case report. Cutis. 2009;84:269-71 pubmed
    ..The patient's clinical presentation and history were consistent with pachyonychia congenita (PC), an autosomal dominant genodermatosis caused by mutations in the genes for keratin 6, K6a and K6b; keratin 16, K16; and keratin 17, K17.
  46. Eliason M, Leachman S, Feng B, SCHWARTZ M, Hansen C. A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita. J Am Acad Dermatol. 2012;67:680-6 pubmed publisher
    ..Previous classification schemes have relied on data from case series and case reports. Most patients in these reports were not genetically tested for PC...
  47. Winge M, Bradley M, Bjorck E. Impaired wound healing and cheilitis in a Pachyonychia congenita K6a family. J Eur Acad Dermatol Venereol. 2015;29:185-7 pubmed publisher
  48. Morais P, Peralta L, Loureiro M, Coelho S. Pachyonychia congenita type 2 (Jackson-Lawler syndrome) or PC-17: case report. Acta Dermatovenerol Croat. 2013;21:48-51 pubmed
    Pachyonychia congenita (PC) is a rare genodermatosis caused by mutations in any of the four genes KRT6A, KRT6B, KRT16, or KRT17, which can lead to dystrophic, thickened nails and focal palmoplantar keratoderma, among other manifestations...
  49. Tischkowitz M, Brunet J, Begin L, Huntsman D, Cheang M, Akslen L, et al. Use of immunohistochemical markers can refine prognosis in triple negative breast cancer. BMC Cancer. 2007;7:134 pubmed
  50. Millar E, Graham P, O Toole S, McNeil C, Browne L, Morey A, et al. Prediction of local recurrence, distant metastases, and death after breast-conserving therapy in early-stage invasive breast cancer using a five-biomarker panel. J Clin Oncol. 2009;27:4701-8 pubmed publisher
    ..This information may be useful in discussing outcomes and planning management with patients after BCT. ..
  51. Xiao J, Lu X, Chen X, Zou Y, Liu A, Li W, et al. Eight potential biomarkers for distinguishing between lung adenocarcinoma and squamous cell carcinoma. Oncotarget. 2017;8:71759-71771 pubmed publisher
    ..We identified DSG3 (desmoglein 3), KRT5 (keratin 5), KRT6A (keratin 6A), KRT6B (keratin 6B), NKX2-1 (NK2 homeobox 1), SFTA2 (surfactant associated 2), SFTA3 (surfactant ..
  52. Chan J, Yuen D, Too P, Sun Y, Willard B, Man D, et al. Keratin 6a reorganization for ubiquitin-proteasomal processing is a direct antimicrobial response. J Cell Biol. 2018;217:731-744 pubmed publisher
    ..We reported that the intermediate filament keratin 6a (K6a) is constitutively processed into antimicrobial fragments in corneal epithelial cells...
  53. Yang L, Li M, Lai M, Ni J. [The 521 T--> C mutation in the keratin 6A gene in a pedigree with pachyonychia congenita type I]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010;27:66-8 pubmed publisher
    To identify the mutation in the keratin 6A(K6A) gene in a pedigree with pachyonychia congenita type I (PC-I). Blood samples were obtained from 2 affected, 3 unaffected members in this family, and 100 unrelated healthy individuals...
  54. Wilson N, Leachman S, Hansen C, McMullan A, Milstone L, SCHWARTZ M, et al. A large mutational study in pachyonychia congenita. J Invest Dermatol. 2011;131:1018-24 pubmed publisher
    ..PC is due to heterozygous mutations in one of four keratin genes, namely, KRT6A, KRT6B, KRT16, or KRT17...
  55. Terrinoni A, Smith F, Didona B, Canzona F, Paradisi M, Huber M, et al. Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita. J Invest Dermatol. 2001;117:1391-6 pubmed
    ..Heterozygous mis-sense or small in-frame insertion/deletion mutations were detected in the genes encoding keratins K6a, K16, and K17 in all cases. Three novel mutations, F174V, E472K, and L469R were found in the K6a gene...
  56. Wilson N, O Toole E, Milstone L, Hansen C, Shepherd A, Al Asadi E, et al. The molecular genetic analysis of the expanding pachyonychia congenita case collection. Br J Dermatol. 2014;171:343-55 pubmed publisher
    ..It is caused by mutations in one of five keratin genes: KRT6A, KRT6B, KRT6C, KRT16 or KRT17...
  57. Rosenberg M, Fuchs E, Le Beau M, Eddy R, Shows T. Three epidermal and one simple epithelial type II keratin genes map to human chromosome 12. Cytogenet Cell Genet. 1991;57:33-8 pubmed
    ..which encode the human type II epidermal keratins K5, K6a, and K6b and the simple epithelial keratin K7 (KRT5, KRT6A, KRT6B, and KRT7, respectively) to chromosome 12 using Southern blot analysis of somatic cell hybrids...