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Gene information for LARGE (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID9215
Official gene symbolLARGE
Full namelike-glycosyltransferase
Aliases,KIAA0609,MDC1D,
Gene summaryThis 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]
LocationChromosome: 22   Locus: 22q12.3
Gene position34316416 - 33669062  Map Viewer
Gene orientationminus
Gene size647355 bp
Gene sequence
OMIM ID603590