Peptide sequence: LTFQILLLPV VLQHISDHLC RSQLQRSIFS ALVVAWYSSA CHVSNTLRPL
Sequence homology: Cow: 86%; Dog: 86%; Horse: 93%; Human: 100%; Mouse: 86%; Pig: 86%; Rabbit: 77%; Rat: 86%
The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.
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Protein Aliases: Dolichyl-phosphate-mannose--protein mannosyltransferase 1; FLJ37239; Protein O-mannosyl-transferase 1; protein-O-mannosyltransferase 1; testis tissue sperm-binding protein Li 57p
Gene Aliases: LGMD2K; MDDGA1; MDDGB1; MDDGC1; POMT1; RT
UniProt ID: (Human) Q9Y6A1
Entrez Gene ID: (Human) 10585