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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Dolichyl-phosphate-mannose--protein mannosyltransferase 1; FLJ37239; Protein O-mannosyl-transferase 1; protein-O-mannosyltransferase 1; testis tissue sperm-binding protein Li 57p
基因别名: LGMD2K; MDDGA1; MDDGB1; MDDGC1; POMT1; RT
UniProt ID: (Human) Q9Y6A1
Entrez Gene ID: (Human) 10585