The SPATA7 gene is mapped to chromosome 14q31.3. It encodes a protein of 599 amino acids, which is expressed in the testes and the retina. The function of SPATA1 is not well known, although it is known to be involved in retinal function. There is evidence to show that SPATA7 is a ciliary protein, and that it directly interacts with the retinitis pigmentosa GTPase regulator interacting protein 1. Defects in this protein are the cause of Leber Congenital Amaurosis 3 (LCA3) and Autosomal Recessive Retinitis Pigmentosa (ARRP).
