Aliases for POMT1 Gene
External Ids for POMT1 Gene
Previous GeneCards Identifiers for POMT1 Gene
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]
GeneCards Summary for POMT1 Gene
POMT1 (Protein-O-Mannosyltransferase 1) is a Protein Coding gene. Diseases associated with POMT1 include congenital muscular dystrophy without intellectual disability and pomt1-related muscle diseases. Among its related pathways are Other types of O-glycan biosynthesis. GO annotations related to this gene include mannosyltransferase activity and dolichyl-phosphate-mannose-protein mannosyltransferase activity. An important paralog of this gene is POMT2.
UniProtKB/Swiss-Prot for POMT1 Gene
Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient.