NEDEPH
Chr XXLRphosphatidylinositol glycan anchor biosynthesis class A
Also known as: GPI3, MCAHS2, NEDEPH, PIG-A, PNH1
The protein synthesizes N-acetylglucosaminyl phosphatidylinositol (GlcNAc-PI), the first intermediate in the biosynthetic pathway of glycosylphosphatidylinositol (GPI) anchors that attach proteins to cell surfaces. Mutations cause neurodevelopmental disorder with epilepsy and hemochromatosis. Inheritance is X-linked 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/NEDEPH?content-type=application/json&expand=1
gnomad: TimeoutError: The operation was aborted due to timeout
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NEDEPH · 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