DISEASES

Disease-gene associations mined from literature

Literature associating SPATA7 and Joubert syndrome 3

SPATA7 [ENSP00000377176]

Spermatogenesis-associated protein HSD3; Involved in photoreceptor cells maintenance (By similarity). It is required for recruitment and proper localization of RPGRIP1 to the photoreceptor connecting cilium (CC), as well as protein trafficking across the CC to the outer segments (By similarity).

Synonyms:  SPATA7,  SPATA7p,  hSPATA7,  G3V287,  G3V2E1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM