AAGAB

Summary

Gene Symbol: AAGAB
Description: alpha and gamma adaptin binding protein
Alias: KPPP1, PPKP1, PPKP1A, p34, alpha- and gamma-adaptin-binding protein p34
Species: human
Products:     AAGAB

Top Publications

  1. Page L, Sowerby P, Lui W, Robinson M. Gamma-synergin: an EH domain-containing protein that interacts with gamma-adaptin. J Cell Biol. 1999;146:993-1004 pubmed
    ..Two novel, ubiquitously expressed proteins were found: p34, which interacts with both gamma-adaptin and alpha-adaptin, and gamma-synergin, an alternatively spliced protein ..
  2. Li M, Dai X, Cheng R, Yang L, Yao Z, Liu J. A novel 5-bp deletion mutation in AAGAB gene in a Chinese family with punctate palmoplantar keratoderma. Acta Derm Venereol. 2014;94:339-40 pubmed publisher
  3. Furniss M, Higgins C, Martinez Mir A, Horev L, Petukhova L, Stanimirović A, et al. Identification of distinct mutations in AAGAB in families with type 1 punctate palmoplantar keratoderma. J Invest Dermatol. 2014;134:1749-1752 pubmed publisher
  4. Nomura T, Moriuchi R, Takeda M, Suzuki S, Kikuchi K, Ito T, et al. Low-dose etretinate shows promise in management of punctate palmoplantar keratoderma type 1: Case report and review of the published work. J Dermatol. 2015;42:889-92 pubmed publisher
    ..Loss-of-function mutations in AAGAB have recently been reported as a cause of PPKP1...
  5. Giehl K, Eckstein G, Pasternack S, Praetzel Wunder S, Ruzicka T, Lichtner P, et al. Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer. Am J Hum Genet. 2012;91:754-9 pubmed publisher
    ..33-q23 two heterozygous nonsense mutations-c.370C>T (p.Arg124(?)) and c.481C>T (p.Arg161(?))-in AAGAB in all affected individuals...
  6. Giehl K, Herzinger T, Wolff H, Sárdy M, von Braunmühl T, Dekeuleneer V, et al. Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability. Acta Derm Venereol. 2016;96:468-72 pubmed publisher
    Punctate palmoplantar keratoderma (PPKP1; Buschke-Fischer-Brauer) is a rare autosomal dominant inherited skin disease characterized by multiple hyperkeratotic papules involving the palms and soles...
  7. Li M, Yang L, Shi H, Guo B, Dai X, Yao Z, et al. Loss-of-function mutation in AAGAB in Chinese families with punctuate palmoplantar keratoderma. Br J Dermatol. 2013;169:168-71 pubmed publisher
    ..Recently, mutations in the genes ?- and ?-adaptin-binding protein p34 (AAGAB) and collagen, type XIV, ?1 (COL14A1) have been reported to cause PPPK...
  8. Kiritsi D, Chmel N, Arnold A, Jakob T, Bruckner Tuderman L, Has C. Novel and recurrent AAGAB mutations: clinical variability and molecular consequences. J Invest Dermatol. 2013;133:2483-2486 pubmed publisher
  9. Cui H, Gao M, Wang W, Xiao R, Chen G, Zhang Q, et al. Six mutations in AAGAB confirm its pathogenic role in Chinese punctate palmoplantar keratoderma patients. J Invest Dermatol. 2013;133:2631-2634 pubmed publisher

More Information

Publications16

  1. Nomura T, Yoneta A, Pohler E, Suzuki S, Osawa R, Mizuno O, et al. Punctate palmoplantar keratoderma type 1: a novel AAGAB mutation and efficacy of etretinate. Acta Derm Venereol. 2015;95:110-1 pubmed publisher
  2. Pohler E, Huber M, Boonen S, Zamiri M, Gregersen P, Sommerlund M, et al. New and recurrent AAGAB mutations in punctate palmoplantar keratoderma. Br J Dermatol. 2014;171:433-6 pubmed publisher
  3. Akasaka E, Okawa Y, Nakano H, Takiyoshi N, Rokunohe D, Toyomaki Y, et al. Two Japanese familial cases of punctate palmoplantar keratoderma caused by a novel AAGAB mutation, c.191_194delCAAA. J Dermatol Sci. 2015;78:156-8 pubmed publisher
  4. Lei S, Papasian C, Deng H. Polymorphisms in predicted miRNA binding sites and osteoporosis. J Bone Miner Res. 2011;26:72-8 pubmed publisher
  5. Pohler E, Mamaï O, Hirst J, Zamiri M, Horn H, Nomura T, et al. Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma. Nat Genet. 2012;44:1272-6 pubmed publisher
    ..In 18 families with autosomal dominant punctate PPK, we report heterozygous loss-of-function mutations in AAGAB, encoding α- and γ-adaptin-binding protein p34, located at a previously linked locus at 15q22...
  6. Pohler E, Zamiri M, Harkins C, Salas Alanis J, Perkins W, Smith F, et al. Heterozygous mutations in AAGAB cause type 1 punctate palmoplantar keratoderma with evidence for increased growth factor signaling. J Invest Dermatol. 2013;133:2805-2808 pubmed publisher
  7. Eytan O, Sarig O, Israeli S, Mevorah B, Basel Vanagaite L, Sprecher E. A novel splice-site mutation in the AAGAB gene segregates with hereditary punctate palmoplantar keratoderma and congenital dysplasia of the hip in a large family. Clin Exp Dermatol. 2014;39:182-6 pubmed publisher
    ..PPKP type 1 is usually not associated with extracutaneous features. To investigate a large family in which PPKP1 was present in association with congenital dysplasia of the hip (CDH)...