DISEASES

Disease-gene associations mined from literature

Literature associating SPATA7 and short-rib thoracic dysplasia 6 with or without polydactyly

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