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POMT2 protein-O-mannosyltransferase 2

Also known as: LGMD2N; MDDGA2; MDDGB2; MDDGC2

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]

Genomic context

Location:
14q24
Sequence:
Chromosome: 14; NC_000014.9 (77274956..77320884, complement)
Total number of exons:
24

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