{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n GTDC1 is a gene located on human chromosome 2q22 that encodes a protein containing a glycosyltransferase‐like domain, suggesting a role in the formation of carbohydrate moieties on glycoproteins and glycolipids (3). Initial cloning and expression profiling revealed that GTDC1 is relatively highly expressed in the adult lung, spleen, testis, and peripheral blood leukocytes, hinting at a putative involvement in diverse biological processes (3). In addition, genetic association studies have linked variants in the genomic region containing GTDC1 with resistance to Mycobacterium tuberculosis infection, thereby implicating it in host immune responses (1). Disruption of GTDC1 through chromosomal deletions or the formation of chimeric transcripts—often in conjunction with alterations involving the neighboring ZEB2 gene—has been documented in patients with multiple congenital anomalies and Mowat–Wilson syndrome, suggesting that loss of GTDC1 function may contribute to profound neurodevelopmental and congenital malformations (2,6,7). Furthermore, functional studies using patient‐derived induced pluripotent stem cells and zebrafish models have demonstrated that perturbation of GTDC1 expression leads to defects in neural progenitor cell differentiation and neuronal development, thereby reinforcing its role in the central nervous system (4). GTDC1 is also identical to a previously characterized mannosyltransferase‐like gene (Hmat‐Xa), whose expression is notably elevated in colon adenocarcinoma, proposing its potential utility as a diagnostic marker in oncology (5). Epigenetic studies have further identified GTDC1 among genes with differentially methylated sites in cord blood associated with prenatal environmental exposures, an observation that links GTDC1 to the regulation of immune‐related pathways (8). Finally, large chromosomal deletions encompassing GTDC1 have been associated with intellectual disability, autism spectrum disorders, and congenital malformations, underscoring the multifaceted roles of GTDC1 in human health and disease (9,10).\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Citations:."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "10"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Robert P Igo, Noémi B Hall, LaShaunda L Malone, et al. 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