SPATA7, Official Symbol SPATA7provided by HGNC Official Full Name spermatogenesis associated 7provided by HGNC Primary source HGNC:HGNC:20423 See related Ensembl:ENSG00000042317 MIM:609868; AllianceGenome:HGNC:20423 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HSD3; LCA3; RP94; HSD-3.1; HEL-S-296 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] Expression Broad expression in testis (RPKM 22.8), thyroid (RPKM 6.0) and 17 other tissues See more Orthologs mouse all