MCAHS2
Chr XXLRphosphatidylinositol glycan anchor biosynthesis class A
Also known as: GPI3, MCAHS2, NEDEPH, PIG-A, PNH1
This protein is required for synthesis of N-acetylglucosaminyl phosphatidylinositol (GlcNAc-PI), the first intermediate in the GPI anchor biosynthetic pathway that anchors proteins to cell surfaces. Mutations cause multiple congenital anomalies-hypotonia-seizures syndrome 2, a disorder affecting multiple organ systems with neurological manifestations including hypotonia and seizures from early life. The condition follows X-linked recessive inheritance.
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/MCAHS2?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
MCAHS2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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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Links to major genomics databases and tools