SPATA7
Gene Information
- Official Symbol: SPATA7
- Official Name: spermatogenesis associated 7
- Aliases and Previous Symbols: N/A
- Entrez ID: 55812
- UniProt: Q9P0W8
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez Summary: 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].
- UniProt Summary: Involved in photoreceptor cells maintenance (By similarity). It is required for recruitment and proper localization of RPGRIP1 to the photoreceptor connecting cilium (CC), as well as protein trafficking across the CC to the outer segments (By similarity). {ECO:0000250|UniProtKB:Q80VP2}.
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 16621
- Expression level (log2 read counts): 2.37
SPATA7 Expression in NALM6 Cells: 2.37
