NCAPH gene

non-SMC condensin I complex subunit H

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Regulatory subunit of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases (PubMed:11136719). Early in neurogenesis, may play an essential role to ensure accurate mitotic chromosome condensation in neuron stem cells, ultimately affecting neuron pool and cortex size (PubMed:27737959).

From NCBI Gene:

  • MICROCEPHALY 23, PRIMARY, AUTOSOMAL RECESSIVE

From UniProt:

Microcephaly 23, primary, autosomal recessive (MCPH23): A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. [MIM:617985]

Cytogenetic Location: 2q11.2, which is the long (q) arm of chromosome 2 at position 11.2

Molecular Location: base pairs 96,335,741 to 96,377,095 on chromosome 2 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 2q11.2, which is the long (q) arm of chromosome 2 at position 11.2
  • BRRN1
  • CAP-H
  • CAPH
  • MCPH23