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The GTDC1 (Glycosyltransferase-Like Domain Containing 1) gene encodes a protein that is hypothesized to function as a glycosyltransferase. This gene has been implicated in several crucial biological processes, particularly in the nervous system. The GTDC1 cDNA is 2954 base pairs in length, encoding a protein of 458 amino acids, and shows high expression in tissues such as the lung, spleen, testis, and peripheral blood leukocytes. Genetic studies have highlighted its potential role in developmental disorders, such as global developmental delay and delayed speech and language development, linked to microdeletions encompassing the GTDC1 gene. Disruption of GTDC1 expression has been shown to affect neural progenitor cells and neurons, indicating its significance in neural development. Additionally, the gene holds evolutionary conservation, sharing 75% and 37% identity with its mouse and fruit fly counterparts, respectively.
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Protein Aliases: glycosyltransferase-like 1; glycosyltransferase-like domain containing 1; Glycosyltransferase-like domain-containing protein 1; glycosyltransferase-like protein; mannosyltransferase candidate; Mannosyltransferase-like protein Xa; Mat-Xa; QTMAN; tRNA-queuosine alpha-mannosyltransferase
Gene Aliases: E330008O22Rik; GTDC1; Hmat-Xa; mat-Xa; QTMAN
UniProt ID: (Human) Q4AE62, (Rat) Q53E76, (Mouse) Q8BW56
Entrez Gene ID: (Human) 79712, (Rat) 362129, (Mouse) 227835
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