Gene Symbol | SPATA7 |
Entrez Gene ID | 55812 |
Full Name | spermatogenesis associated 7 |
Synonyms | HEL-S-296,HSD-3.1,HSD3,LCA3 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Leber congenital amaurosis 3, 604232 (3); Retinitis pigmentosa, juvenile, autosomal recessive, 604232 (3) |