Acetylglucosaminyltransferase-Like Protein

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OMIM Number

603590

NCBI Gene ID

9215

Uniprot ID

O95461

Length

760,616 bases

No. of Exons

24

No. of isoforms

2

Protein Name

LARGE xylosyl- and glucuronyltransferase 1

Molecular Mass

88066 Da

Amino Acid Count

756

Genomic Location

chr22:33,162,226-33,922,841

Gene Map Locus
22q12.3

Description

This gene 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. The protein encoded by this gene is the glycotransferase that adds the final xylose and glucuronic acid to alpha-dystroglycan and thereby allows alpha-dystroglycan to bind ligands including laminin 211 and neurexin. Mutations in this gene cause several forms of congenital muscular dystrophy characterized by cognitive disability and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in multiple transcript variants that encode the same protein. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
LARGE1, 42.9-KB INS/4.1-KB DELLebanon22q12.3-q13.1PathogenicPathogenicMuscular Dystrophy-Dystroglycanopathy (Congenital with Mental Retardation), type B, 630365
NM_133642.5:c.1792G>ASaudi ArabiaNC_000022.11:g.33283287C>TLikely Pathogenic, Uncertain SignificancePathogenicMuscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6NG_009929.2:g.642142G>A; NM_133642.5:c.1792G>A; NP_598397.1:p.Glu598Lys14404546172928
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