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
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).
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...
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. ..
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...
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. ..
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...
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 ..