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PIGV is a mannosyltransferase enzyme involved in the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is a complex glycolipid that functions as a membrane anchor for many proteins and plays a role in multiple cellular processes including protein sorting and signal transduction. The encoded protein is localized to the endoplasmic reticulum and transfers the second mannose to the GPI backbone. Mutations in this gene are associated with hyperphosphatasia mental retardation syndrome. Alternatively spliced transcript variants have been observed for this gene.
Gene Name: | phosphatidylinositol glycan anchor biosynthesis, class V |
Synonyms: | PIGV, GPI mannosyltransferase II, GPI-MT-II, HPMRS1, GPI mannosyltransferase 2, Ybr004c homolog, PIG-V |
Target Sequences: | NM_017837 NP_060307.2 Q9NUD9 |
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