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PIGV phosphatidylinositol glycan anchor biosynthesis class V

Gene ID: 55650, updated on 9-Dec-2024
Gene type: protein coding
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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Discovery and refinement of loci associated with lipid levels.
GeneReviews: Not available
Hyperphosphatasia with intellectual disability syndrome 1
MedGen: C4551502OMIM: 239300GeneReviews: Not available
not available

Genomic context

Location:
1p36.11
Sequence:
Chromosome: 1; NC_000001.11 (26787054..26800659)
Total number of exons:
6

Links

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