Family

Spermatogenesis-associated protein 7 (IPR029357)

Short name: SPATA7

Family relationships

None.

Description

This entry represents the spermatogenesis-associated protein 7 (SPATA7, also known as HSD3). It was first identified in human spermatocytes. Later on, it was also found expressed in multiple layers of the mature mouse retina [PMID: 19268277]. Mutations in SPATA7 cause Leber congenital amaurosis 3 (LCA3), which is a severe dystrophy of the retina, typically becoming evident in the first years of life [PMID: 19268277, PMID: 20104588]. Mutations in SPATA7 also cause autosomal recessive retinitis pigmentosa (ARRP), which is a retinal dystrophy belonging to the group of pigmentary retinopathies [PMID: 19268277].

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
Pfam