C1QBP
Chr 17ARcomplement C1q binding protein
Also known as: COXPD33, GC1QBP, HABP1, SF2AP32, SF2p32, gC1Q-R, gC1qR, p32
C1QBP encodes a multifunctional protein involved in mitochondrial protein synthesis, pre-mRNA splicing, complement system regulation, and ribosome biogenesis. Mutations cause combined oxidative phosphorylation deficiency 33 with autosomal recessive inheritance. The gene shows high tolerance to loss-of-function variants (very low pLI score), suggesting the disease mechanism may be complex and potentially involve specific functional domains rather than simple protein loss.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
C1QBP · 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