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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.
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
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Links to major genomics databases and tools