Aliases for SPATA7 Gene
External Ids for SPATA7 Gene
Previous HGNC Symbols for SPATA7 Gene
Previous GeneCards Identifiers for SPATA7 Gene
This gene, originally isolated from testis, is also expressed in retina. Mutations in this gene are associated with Leber congenital amaurosis and juvenile retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
GeneCards Summary for SPATA7 Gene
UniProtKB/Swiss-Prot Summary for SPATA7 Gene
Involved in the maintenance of both rod and cone photoreceptor cells (By similarity). It is required for recruitment and proper localization of RPGRIP1 to the photoreceptor connecting cilium (CC), as well as photoreceptor-specific localization of proximal CC proteins at the distal CC (By similarity). Maintenance of protein localization at the photoreceptor-specific distal CC is essential for normal microtubule stability and to prevent photoreceptor degeneration (By similarity).