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MCAHS4
Chr 16ARphosphatidylinositol glycan anchor biosynthesis class Q
Also known as: DEE77, EIEE77, GPI1, GPIBD19, MCAHS4, c407A10.1
The protein functions as an N-acetylglucosaminyl transferase component in the complex that catalyzes the first step of glycosylphosphatidylinositol (GPI)-anchor biosynthesis, transferring N-acetylglucosamine from UDP-GlcNAc to phosphatidylinositol to create glycolipid anchors that attach proteins to cell surfaces. Biallelic mutations cause multiple congenital anomalies-hypotonia-seizures syndrome 4, which presents in the neonatal period with seizures, hypotonia, and multiple congenital anomalies. This condition follows autosomal recessive inheritance.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/MCAHS4?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
MCAHS4 · 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
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External Resources
Links to major genomics databases and tools