Full name: |
spermatogenesis associated 7 |
Synonyms: |
HSD3; LCA3; HSD-3.1; HEL-S-296 |
Swissprot: |
Q9P0W8 |
Gene Accession: |
BC008656 |
Purity: |
>85%, as determined by Coomassie blue stained SDS-PAGE |
Expression system: |
Escherichia coli |
Tags: |
His tag C-Terminus, GST tag N-Terminus |
Background: |
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. |