RCHY1
Chr 4ring finger and CHY zinc finger domain containing 1
Also known as: ARNIP, CHIMP, PIRH2, PRO1996, RNF199, ZCHY, ZNF363
The protein functions as an E3 ubiquitin ligase that mediates ubiquitination and proteasomal degradation of multiple target proteins including p53, TP73, and HDAC1, and is involved in ribosome-associated quality control pathways. Mutations in RCHY1 cause autosomal recessive intellectual disability with microcephaly, seizures, and spasticity with onset in infancy or early childhood. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.636), consistent with its autosomal recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
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
RCHY1 · 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