Sequence in raw or FASTA format:
RS1 retinoschisin 1 [Homo sapiens (human)]
|Entrez Gene ID||6247|
|Full Name||retinoschisin 1|
|General protein information||
|Organism||Homo sapiens (human)|
|Summary||This 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, Oct 2008].|
|Homo sapiens (human)||RS1||NP_000321.1|
|Macaca mulatta (Rhesus monkey)||RS1||XP_002806207.1|
|Canis lupus familiaris (dog)||RS1||XP_548882.2|
|Mus musculus (house mouse)||Rs1||NP_035432.3|
|Rattus norvegicus (Norway rat)||Rs1||NP_001098113.1|
|Gallus gallus (chicken)||RS1||NP_001128447.1|
|Danio rerio (zebrafish)||rs1a||NP_001003438.1|
|Xenopus (Silurana) tropicalis (western clawed frog)||rs1||NP_001096319.1|
|GO:0007275||multicellular organismal development||TAS|
|GO:0010842||retina layer formation||IEA|
|GO:0016062||adaptation of rhodopsin mediated signaling||IEA|
|GO:0019897||extrinsic component of plasma membrane||IEA|
What is the normal function of the RS1 gene?
The RS1 gene provides instructions for producing a protein called retinoschisin, which is found in the retina. The retina is a specialized light-sensitive tissue that lines the back of the eye. Studies suggest that retinoschisin plays a role in the development and maintenance of the retina and in specialized cells within the retina that detect light and color (photoreceptor cells). This protein's exact role in the maintenance of the retina is unknown. Retinoschisin probably is involved in the organization of cells in the retina by connecting cells together (cell adhesion).
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