DISEASES

Disease-gene associations mined from literature

Literature associating CENPA and collagen disease

CENPA [ENSP00000336868]

Histone H3-like centromeric protein A; Histone H3-like nucleosomal protein that is specifically found in centromeric nucleosomes. Replaces conventional H3 in the nucleosome core of centromeric chromatin at the inner plate of the kinetochore. The presence of CENPA subtly modifies the nucleosome structure and the way DNA is wrapped around the nucleosome and gives rise to protruding DNA ends that are less well-ordered and rigid compared to nucleosomes containing histone H3. May serve as an epigenetic mark that propagates centromere identity through replication and cell division. Required for recruitment and assembly of kinetochore proteins, and as a consequence required for progress through mitosis, chromosome segregation and cytokinesis.

Synonyms:  CENPA,  F8WD88,  P49450,  F8WD88p,  hF8WD88 ...

Linkouts:  STRING  Pharos  UniProt  OMIM