Protein Domain : Spermatogenesis-associated protein 7 IPR029357

Type  Family
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 [ ]. 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 [, ]. Mutations in SPATA7 also cause autosomal recessive retinitis pigmentosa (ARRP), which is a retinal dystrophy belonging to the group of pigmentary retinopathies [].
Short Name  SPATA7

0 Child Features

0 Gene Families

0 Genes

0 Ontology Annotations

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0 Publications

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