CYB5D2
Chr 17cytochrome b5 domain containing 2
CYB5D2 encodes a heme-binding protein that promotes neuronal differentiation. Mutations cause autosomal recessive neurodevelopmental disorders affecting the nervous system. The gene shows low constraint against loss-of-function variants (pLI <0.01), consistent with recessive inheritance patterns.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CYB5D2 · 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