Full name: phosphatidylinositol glycan anchor biosynthesis class V

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: GPI-MT-II; HPMRS1; PIG-V

Summary: This gene encodes 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 cognitive disability syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]

Expression: Broad expression in testis (RPKM 19.4), thyroid (RPKM 7.7) and 25 other tissues

Gene size: 13606bp

Exon count: 6