Entrez gene ID | | 9215 |
Official gene symbol | | LARGE |
Full name | | like-glycosyltransferase |
Aliases | | ,KIAA0609,MDC1D, |
Gene summary | | This gene, which is one of the largest in the human genome, encodes a member of the N-acetylglucosaminyltransferase gene family. It encodes a glycosyltransferase which participates in glycosylation of alpha-dystroglycan, and may carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. It may also be involved in the addition of a repeated disaccharide unit. Mutations in this gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in two transcript variants that encode the same protein. [provided by RefSeq] |
Location | | Chromosome: 22 Locus: 22q12.3 |
Gene position | | 34316416 - 33669062 Map Viewer |
Gene orientation | | minus |
Gene size | | 647355 bp |
Gene sequence |
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OMIM ID | | 603590 |
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