Peptide Sequence: CVLGSSGKVL PKWGWEQLEV TCTPYLKETL NSIWNVEDHI NPKLPNISLD VLQPSFPEIL LESHMVMIRG NSGLKPKDNE FTSKPWHWPI NYQGLRFS
The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT1 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).
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Protein Aliases: DKFZp686G10254; Dolichyl-phosphate-mannose--protein mannosyltransferase; Dolichyl-phosphate-mannose--protein mannosyltransferase 2; FLJ22309; Protein O-mannosyl-transferase 2; protein-O-mannosyltransferase 2
Gene Aliases: LGMD2N; MDDGA2; MDDGB2; MDDGC2; POMT2
UniProt ID: (Human) Q9UKY4
Entrez Gene ID: (Human) 29954