NCAPH2
Description
The NCAPH2 (non-SMC condensin II complex subunit H2) is a protein-coding gene located on chromosome 22.
Condensin-2 complex subunit H2, also known as chromosome-associated protein H2 (CAP-H2) or non-SMC condensin II complex subunit H2 (NCAPH2), is a protein that in humans is encoded by the NCAPH2 gene. CAP-H2 is a subunit of condensin II, a large protein complex involved in chromosome condensation.
NCAPH2 is a regulatory subunit of the condensin-2 complex, which plays a vital role in organizing and stiffening chromosomes, contributing to the formation of mitotic chromosome structure. It may facilitate the separation of intertwined DNA strands (catenanes) between sister chromatids. Condensin-mediated chromosome compaction likely increases tension in linked sister chromatids, guiding the action of type II topoisomerase in resolving these links and separating the chromatids. NCAPH2 is essential for resolving chromatin bridges during anaphase. In early neurogenesis, NCAPH2 is believed to be crucial for ensuring proper mitotic chromosome condensation in neural stem cells, potentially affecting the number of neurons and the size of the cortex. Additionally, it appears to have a specific function in T-cell development.
NCAPH2 is also known as CAPH2.
Associated Diseases
- cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
- fatal infantile encephalocardiomyopathy
- cytochrome-c oxidase deficiency disease
- ovarian cancer
- endometrial cancer
- mitochondrial DNA depletion syndrome 1
