Spermatogenesis-associated protein 7 (SPATA7)

Spermatogenesis-associated protein 7 (SPATA7) is a cytoplasmic scaffold protein discovered in spermatocytes and expressed in the retina, fallopian tube, and respiratory epithelium[3][4]. It plays a critical role in photoreceptor cell maintenance by ensuring correct localization of proteins involved in the connecting cilium (CC), which is essential for normal microtubule stability and photoreceptor survival[1][2][6]. SPATA7 forms part of a complex network with other ciliary proteins, such as RPGR and RPGRIP1, required for the integrity of the retinal CC[1][2]. Loss-of-function mutations in SPATA7 disrupt protein trafficking in photoreceptors, leading to rhodopsin mislocalization, endoplasmic reticulum (ER) stress, and rapid photoreceptor degeneration manifesting as Leber congenital amaurosis (LCA3) and juvenile retinitis pigmentosa in humans and mouse models[1][2][7]. The gene has two isoforms due to alternative splicing[7], and clinical interest centers on genetic testing and potential gene replacement therapies[7]. SPATA7 is not currently classified as a druggable target, but advances in retinal gene therapy may change that.

Other names

HSD3HSD-3.1HEL-S-296LCA3RP94epididymis secretory protein Li 296spermatogenesis-associated protein HSD3epididymis secretory sperm binding protein

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