POMT1 抗体
(Protein-O-Mannosyltransferase 1 (POMT1))
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.[provided by RefSeq, Oct 2008].
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Aliases for POMT1 抗体
protein O-mannosyltransferase 1 (POMT1) 抗体protein-O-mannosyltransferase 1 (Pomt1) 抗体
AI505244 抗体
LGMD2K 抗体
MDDGA1 抗体
MDDGB1 抗体
MDDGC1 抗体
RT 抗体
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