NCAPH2

Chr 22

non-SMC condensin II complex subunit H2

Also known as: CAPH2

NCBI Gene: 29781 ENSG00000025770 UniProt: Q6IBW4 OMIM: 611230

The NCAPH2 protein is a regulatory subunit of the condensin-2 complex that ensures proper mitotic chromosome condensation and organization, particularly critical during neurogenesis for accurate cell division in neural stem cells. Mutations cause microcephaly and developmental delay with autosomal recessive inheritance. This gene is highly intolerant to loss-of-function variants, reflecting its essential role in neurodevelopment.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes one of the non-SMC subunits of the condensin II complex. This complex plays an essential role in mitotic chromosome assembly. Alternate splicing of this gene results in multiple transcript variants.[provided by RefSeq, May 2010]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.56

LOEUF

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Mechanism