CENPT Chromosome 16

Centromere protein T

1 variant 1 Health Risk

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What This Gene Does

The centromere is a specialized chromatin domain, present throughout the cell cycle, that acts as a platform on which the transient assembly of the kinetochore occurs during mitosis. All active centromeres are characterized by the presence of long arrays of nucleosomes in which CENPA (MIM 117139) replaces histone H3 (see MIM 601128). CENPT is an additional factor required for centromere assembly (Foltz et al., 2006 [PubMed 16622419]).[supplied by OMIM, Mar 2008]

Gene Info

Gene Group

Constitutive centromere associated network

Locus Type

gene with protein product

Location

16q22.1

Ensembl

ENSG00000102901

Associated Conditions (1)

Short stature and microcephaly with genital anomalies

Key Variants

RS1364608764

Pathogenic

Short stature and microcephaly with genital anomalies, Short stature and microcephaly with genital anomalies

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS1364608764	Health Risk	Pathogenic	Short stature and microcephaly with genital anomalies, Short stature and microcephaly with genital anomalies