PIGV, Official Symbol PIGVprovided by HGNC Official Full Name phosphatidylinositol glycan anchor biosynthesis class Vprovided by HGNC Primary source HGNC:HGNC:26031 See related Ensembl:ENSG00000060642 MIM:610274; AllianceGenome:HGNC:26031 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PIG-V; HPMRS1; GPI-MT-II 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 See more Orthologs mouse all