DISEASES

Disease-gene associations mined from literature

Literature associating SPATA7 and Leber congenital amaurosis 7

SPATA7 [ENSP00000377176]

Spermatogenesis-associated protein 7; Involved in the maintenance of both rod and cone photoreceptor cells (By similarity). It is required for recruitment and proper localization of RPGRIP1 to the photoreceptor connecting cilium (CC), as well as photoreceptor-specific localization of proximal CC proteins at the distal CC (By similarity). Maintenance of protein localization at the photoreceptor-specific distal CC is essential for normal microtubule stability and to prevent photoreceptor degeneration (By similarity).

Synonyms:  SPATA7,  G3V287,  G3V2E1,  G3V2V4,  G3V3D2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM