NCAPH Chromosome 2

Non-SMC condensin I complex subunit H

2 variants 2 Health Risk

Upload your DNA to see your personal genotypes for variants in NCAPH.

What This Gene Does

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]

Gene Info

Gene Group

"Kleisins|Condensin I subunits"

Locus Type

gene with protein product

Location

2q11.2

Ensembl

ENSG00000121152

Associated Conditions (3)

Microcephaly 23

primary

autosomal recessive

Key Variants

RS865866339

Likely pathogenic

Microcephaly 23, primary, autosomal recessive

Health Risk

RS1553446603

Pathogenic

Microcephaly 23, primary, autosomal recessive

Health Risk

All Variants (2)

RSID	Category	Clinical Significance	Conditions
RS865866339	Health Risk	Likely pathogenic	Microcephaly 23, primary, autosomal recessive
RS1553446603	Health Risk	Pathogenic	Microcephaly 23, primary, autosomal recessive