MCAHS1
Chr 18ARphosphatidylinositol glycan anchor biosynthesis class N
Also known as: GPI-ETI, MCAHS, MCAHS1, MCD4, MDC4, PIG-N
The protein transfers phosphoethanolamine to the first mannose of the GPI anchor in the endoplasmic reticulum, which is essential for anchoring proteins to cell surfaces. Mutations cause multiple congenital anomalies-hypotonia-seizures syndrome 1, a disorder affecting the nervous system and multiple organ systems from birth. Inheritance is autosomal recessive.
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/MCAHS1?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
MCAHS1 · 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