DISEASES

Disease-gene associations mined from literature

Literature associating HEPACAM2 and retinitis pigmentosa 32

HEPACAM2 [ENSP00000390204]

HEPACAM family member 2; Required during prometaphase for centrosome maturation. Following poly-ADP-ribosylation (PARsylation) by TNKS, translocates from the Golgi apparatus to mitotic centrosomes and plays a key role in the formation of robust microtubules for prompt movement of chromosomes: anchors AKAP9/CG-NAP, a scaffold protein of the gamma- tubulin ring complex and promotes centrosome maturation.

Synonyms:  HEPACAM2,  A8MVW5,  C9JN07,  A8MVW5p,  hA8MVW5 ...

Linkouts:  STRING  Pharos  UniProt