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Gene information for RS1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID6247
Official gene symbolRS1
Full nameretinoschisin 1
Aliases,RS,XLRS1,
Gene summaryThis gene encodes an extracellular protein that plays a crucial role in the cellular organization of the retina. The encoded protein is assembled and secreted from photoreceptors and bipolar cells as a homo-oligomeric protein complex. Mutations in this gene are responsible for X-linked retinoschisis, a common, early-onset macular degeneration in males that results in a splitting of the inner layers of the retina and severe loss in vision. [provided by RefSeq]
LocationChromosome: X   Locus: Xp22.13
Gene position18690223 - 18657808  Map Viewer
Gene orientationminus
Gene size32416 bp
Gene sequence
OMIM ID312700