Gene Symbol | POMT2 |
Entrez Gene ID | 29954 |
Full Name | protein O-mannosyltransferase 2 |
Synonyms | LGMD2N,MDDGA2,MDDGB2,MDDGC2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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).[provided by RefSeq, Oct 2008]. |
Disorder MIM: | |
Disorder Html: | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156 (3); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158 (3) |