HPMRS2
Chr 9ARphosphatidylinositol glycan anchor biosynthesis class O
Also known as: HPMRS2, hGPCR43
This protein transfers ethanolaminephosphate to the third mannose in glycosylphosphatidylinositol (GPI) anchors, which are glycolipids that anchor proteins to cell surfaces, particularly on blood cells. Mutations cause hyperphosphatasia with impaired intellectual development syndrome 2, an autosomal recessive disorder characterized by elevated alkaline phosphatase levels and intellectual disability. The condition affects multiple systems including neurological development and bone metabolism.
Primary Disease Associations & Inheritance
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/HPMRS2?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
HPMRS2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
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External Resources
Links to major genomics databases and tools