H6PD (O95479) variants and mutations

H6PD (also known as O95479) is a human protein-coding gene encoding a GDH/6PGL endoplasmic bifunctional protein. It generates NADPH within the endoplasmic-reticulum lumen, supporting local redox reactions including prereceptor glucocorticoid metabolism. Biallelic loss-of-function variants can cause cortisone reductase deficiency with compensatory androgen excess and features such as premature pseudopuberty or polycystic-ovary-like symptoms. This analysis covers 1,425 H6PD variants and mutations. Of these, 96% have computational variant effect predictions. Disease context includes Hyperandrogenism due to cortisone reductase deficiency, Abnormality of the skeletal system, and obesity disorder. Example H6PD variants include W2*, W2R, and W2G.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable H6PD variants

Examples include W2*, W2R, W2G, W2C, N3S, N3T, N3H, N3D. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.