Gene: SPATA7

Alternate names for this Gene: HEL-S-296|HSD-3.1|HSD3|LCA3

Gene 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.

Gene is located in Chromosome: 14

Location in Chromosome : 14q31.3

Description of this Gene: spermatogenesis associated 7

Type of Gene: protein-coding

rs61975260 in SPATA7 gene and Attention deficit hyperactivity disorder PMID 30563984 2018 A case-control genome-wide association study of ADHD discovers a novel association with the tenascin R (TNR) gene.

rs71126982 in SPATA7 gene and Glomerular Filtration Rate PMID 31451708 2019 Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.