Aliases for PIGV Gene
External Ids for PIGV Gene
Previous GeneCards Identifiers for PIGV Gene
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]
GeneCards Summary for PIGV Gene
PIGV (Phosphatidylinositol Glycan Anchor Biosynthesis Class V) is a Protein Coding gene. Diseases associated with PIGV include Hyperphosphatasia With Mental Retardation Syndrome 1 and Hyperphosphatasia-Intellectual Disability Syndrome. Among its related pathways are Metabolism of proteins and Post-translational modification- synthesis of GPI-anchored proteins. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring hexosyl groups and mannosyltransferase activity.
UniProtKB/Swiss-Prot for PIGV Gene
Alpha-1,6-mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers the second mannose to the glycosylphosphatidylinositol during GPI precursor assembly.