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LARGE1 LARGE xylosyl- and glucuronyltransferase 1

Gene ID: 9215, updated on 25-Nov-2023
Gene type: protein coding
Also known as: LARGE; MDC1D; MDDGA6; MDDGB6


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. [provided by RefSeq, May 2018]

Associated conditions

See all available tests in GTR for this gene

Genetics of coronary artery calcification among African Americans, a meta-analysis.
GeneReviews: Not available
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
GeneReviews: Not available
Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.
GeneReviews: Not available
Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.
GeneReviews: Not available
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
MedGen: C4284790OMIM: 236670GeneReviews: Not available
See labs
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
MedGen: C3150414OMIM: 613154GeneReviews: Not available
See labs
Muscular dystrophy-dystroglycanopathy type B6
MedGen: C1837229OMIM: 608840GeneReviews: Not available
See labs

Genomic context

Chromosome: 22; NC_000022.11 (33066663..33922824, complement)
Total number of exons:


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