Gene Symbol: GTDC1
Description: glycosyltransferase like domain containing 1
Alias: Hmat-Xa, mat-Xa, glycosyltransferase-like domain-containing protein 1, glycosyltransferase-like 1, mannosyltransferase candidate, mannosyltransferase-like protein Xa
Species: human
Products:     GTDC1

Top Publications

  1. Smigiel R, Szafranska A, Czyzewska M, Rauch A, Zweier C, Patkowski D. Severe clinical course of Hirschsprung disease in a Mowat-Wilson syndrome patient. J Appl Genet. 2010;51:111-3 pubmed
    ..Moreover, molecular karyotyping revealed a deletion involving further genes (KYNU, ARHGAP15, and GTDC1).
  2. Igo R, Hall N, Malone L, Hall J, Truitt B, Qiu F, et al. Fine-mapping analysis of a chromosome 2 region linked to resistance to Mycobacterium tuberculosis infection in Uganda reveals potential regulatory variants. Genes Immun. 2018;: pubmed publisher
    ..We found association with SNPs in neighboring genes ZEB2 and GTDC1 (peak meta p = 1.9 × 10-5) supported by both samples...
  3. Akbari M, Malekzadeh R, Shakeri R, Nasrollahzadeh D, Foumani M, Sun Y, et al. Candidate gene association study of esophageal squamous cell carcinoma in a high-risk region in Iran. Cancer Res. 2009;69:7994-8000 pubmed publisher
    ..79; 95% confidence interval, 0.64-0.96; P = 0.02). These results support the hypothesis that genetic predisposition plays a role in the high incidence of ESSC in Iran. ..
  4. Zhao E, Li Y, Fu X, Zhang J, Zeng H, Zeng L, et al. Cloning and expression of human GTDC1 gene (glycosyltransferase-like domain containing 1) from human fetal library. DNA Cell Biol. 2004;23:183-7 pubmed
    ..Here we report the cloning and characterization of a novel human GTDC1 (glycosyltransferase-like domain containing 1) gene, which locates on human chromosome 2q22...
  5. Leparc G, Mitra R. Non-EST-based prediction of novel alternatively spliced cassette exons with cell signaling function in Caenorhabditis elegans and human. Nucleic Acids Res. 2007;35:3192-202 pubmed
    ..Overall, PASE was able to uncover 59 novel alternative cassette exons in C. elegans and humans through a genome-wide ab initio prediction method that enriches for exons involved in signaling. ..
  6. Shimono N, Nishimura Y, Kamiguchi H, Nishikawa Y. Remarkable expression in the colon adenocarcinoma of Hmat-Xa, a human mannosyltransferase-like gene, that is homologous to drosophila gene GC15914. Biosci Biotechnol Biochem. 2011;75:1451-5 pubmed
    ..After that, the GTDC1 gene, as reported by Zhao et al., DNA Cell Biol., 23, 183-187 (2004), was found to be the same as the Hmat-Xa gene...
  7. Aksoy I, Utami K, Winata C, Hillmer A, Rouam S, Briault S, et al. Personalized genome sequencing coupled with iPSC technology identifies GTDC1 as a gene involved in neurodevelopmental disorders. Hum Mol Genet. 2017;26:367-382 pubmed publisher
    ..We identified the disruption of a specific gene, GTDC1. By deriving iPSCs from this patient and differentiating them into neural progenitor cells (NPCs) and neurons we ..