POMT1
Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). Protein O-mannosyl-transferase 1 is an enzyme that in humans is encoded by the POMT1 gene.[1][2] It is a member of the dolichyl-phosphate-mannose-protein mannosyltransferases.
Function
O-mannosylation is an important protein modification in eukaryotes that is initiated by an evolutionarily conserved family of protein O-mannosyltransferases. POMT1 shares sequence similarity with protein O-mannosyltransferases of S. cerevisiae. In yeast, these enzymes are located in the endoplasmic reticulum (ER) and are required for cell integrity and cell wall rigidity. POMT1 also shows similarity to the Drosophila 'rotated abdomen' (rt) gene, which when mutated causes defects in myogenesis and muscle structure.[supplied by OMIM][2]
It is associated with limb-girdle muscular dystrophy type LGMD2K.[3]
References
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External links
- GeneReviews/NCBI/NIH/UW entry on Congenital Muscular Dystrophy Overview
- GeneReviews/NCBI/NIH/UW entry on Anophthalmia / Microphthalmia Overview
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