LARGE1, LARGE xylosyl- and glucuronyltransferase 1

LARGE1, LARGE xylosyl- and glucuronyltransferase 1

• 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]

• Gene Synonyms (LARGE xylosyl- and glucuronyltransferase 1, acetylglucosaminyltransferase-like 1A, acetylglucosaminyltransferase-like protein, glycosyltransferase-like protein LARGE1, LARGE, MDC1D, MDDGA6, MDDGB6,)
• NCBI Gene ID: 9215
• Species: Homo sapiens (Human)
• UNIPROT ID#>>O95461
  UNIPROT ID#>>X5DR28
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

LARGE xylosyl- and glucuronyltransferase 1 interacts with:

• coiled-coil domain containing 8
  RAN binding protein 10
  transmembrane protein 25

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.