HGH1
Chr 8HGH1 cochaperone
Also known as: BRP16, BRP16L, C8orf30A, C8orf30B, FAM203A, FAM203B
This co-chaperone protein facilitates the proper folding of eukaryotic elongation factor eEF2, an essential component of the cellular translation machinery, by recruiting chaperonin complexes to prevent misfolding during protein synthesis. Mutations cause autosomal recessive neurodevelopmental disorder with hypotonia, seizures, and intellectual disability. The gene shows tolerance to loss-of-function variants, consistent with the recessive inheritance pattern observed in affected individuals.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
The highest-scoring mechanism for this gene is gain-of-function.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
HGH1 · 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.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools