CENPT


Description

The CENPT (centromere protein T) is a protein-coding gene located on chromosome 16.

Centromere protein T is a protein that in humans is encoded by the CENPT gene. Mutations in CENPT cause an autosomal recessive syndrome of microcephaly, short stature, skeletal abnormalities, underdeveloped genitalia and pubertal delay.

CENPT is a component of the CENPA-NAC complex, essential for kinetochore protein assembly, mitotic progression, and chromosome segregation. This complex recruits the CENPA-CAD complex and potentially aids in integrating newly synthesized CENPA into centromeres. CENPT is also part of a nucleosome-associated complex specifically binding to histone H3-containing nucleosomes at the centromere, distinct from CENPA-containing nucleosomes. Additionally, it forms part of the heterotetrameric CENP-T-W-S-X complex, which binds and supercoils DNA, contributing significantly to kinetochore assembly. CENPT plays a critical role in kinetochore assembly and function as an inner kinetochore protein, with many downstream proteins relying on it. It is essential for maintaining normal chromosome organization and proper progression through mitosis.

CENPT is also known as C16orf56, CENP-T, SSMGA.

Associated Diseases


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