Recombinant Human Spermatogenesis-associated protein 7 (SPATA7)

Uniprot Id

Q9P0W8

Target Species

Human

Target Name

SPATA7

Target Full Name

Spermatogenesis-associated protein 7

Target Function

Involved in the maintenance of both rod and cone photoreceptor cells. 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. Maintenance of protein localization at the photoreceptor-specific distal CC is essential for normal microtubule stability and to prevent photoreceptor degeneration.

Target Involvement

Leber congenital amaurosis 3 (LCA3); Retinitis pigmentosa autosomal recessive (ARRP)

Target Subcellular Location

Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton. Cell projection, cilium, photoreceptor outer segment.

Target Synonyms

SPATA7; HSD3; Spermatogenesis-associated protein 7; HSD-3.1; Spermatogenesis-associated protein HSD3

Target Background

This gene, originally isolated from testis, is also expressed in retina. Mutations in this gene are associated with Leber congenital amaurosis and juvenile retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.