DISEASES

Disease-gene associations mined from literature

Literature associating RPGR and retinitis pigmentosa 6

RPGR [ENSP00000367766]

X-linked retinitis pigmentosa GTPase regulator; Could be a guanine-nucleotide releasing factor. Plays a role in ciliogenesis. Probably regulates cilia formation by regulating actin stress filaments and cell contractility. Plays an important role in photoreceptor integrity. May play a critical role in spermatogenesis and in intraflagellar transport processes (By similarity). May be involved in microtubule organization and regulation of transport in primary cilia.

Synonyms:  RPGR,  Q92834,  Q92834p,  hQ92834,  XLRP3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM