NCAPH

Chr 2AR

non-SMC condensin I complex subunit H

Also known as: BRRN1, CAP-H, CAPH, MCPH23, NCAPH1

NCBI Gene: 23397 ENSG00000121152 UniProt: Q15003 OMIM: 602332

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.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the barr gene family and a regulatory subunit of the condensin complex. This complex is required for the conversion of interphase chromatin into condensed chromosomes. The protein encoded by this gene is associated with mitotic chromosomes, except during the early phase of chromosome condensation. During interphase, the protein has a distinct punctate nucleolar localization. Alternatively spliced transcript variants encoding different proteins have been described. [provided by RefSeq, Jul 2013]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Microcephaly 23, primary, autosomal recessiveMIM #617985

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.57

LOEUF

LOF

Mechanism· G2P