SPATA7
Description
The SPATA7 (spermatogenesis associated 7) is a protein-coding gene located on chromosome 14.
Spermatogenesis-associated protein 7 is a protein that in humans is encoded by the SPATA7 gene.
SPATA7 plays a crucial role in maintaining both rod and cone photoreceptor cells. It facilitates the recruitment and accurate positioning of RPGRIP1 within the photoreceptor connecting cilium (CC). Additionally, SPATA7 ensures the correct localization of proximal CC proteins at the distal CC, a process crucial for proper microtubule stability and preventing photoreceptor degeneration.
SPATA7 is also known as HEL-S-296, HSD-3.1, HSD3, LCA3, RP94.
Associated Diseases
- Leber congenital amaurosis-3 (LCA3)/Retinitis pigmentosa, juvenile, autosomal recessive
- Severe early-childhood-onset retinal dystrophy
- Retinitis pigmentosa
- Leber congenital amaurosis
