NCAPH
Chr 2ARnon-SMC condensin I complex subunit H
Also known as: BRRN1, CAP-H, CAPH, MCPH23, NCAPH1
This protein functions as a regulatory subunit of the condensin complex, which converts interphase chromatin into condensed mitotic chromosomes and is essential for accurate chromosome condensation in neural stem cells during early neurogenesis. Mutations cause primary microcephaly 23, a disorder affecting cortical brain development and head size. The condition follows autosomal recessive inheritance.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NCAPH · 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