Synonyms: RS; XLRS1
Storage: -20C
UNSPSC Code: 12352203
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General description: 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)
Biochem/physiol Actions: RS1 (retinoschisin 1) is responsible for maintaining the structure of retina. Mutations in the gene cause X-Linked retinoschisis, which results in loss of vision.
Immunogen: RS1 (AAI41639.1, 1 a.a. ~ 224 a.a) full-length human protein.SequenceMSRKIEGFLLLLLFGYEATLGLSSTEDEGEDPWYQKACKCDCQGGPNALWSAGATSLDCIPECPYHKPLGFESGEVTPDQITCSNPEQYVGWYSSWTANKARLNSQGFGCAWLSKFQDSSQWLQIDLKEIKVISGILTQGRCDIDEWMTKYSVQYRTDERLNWIYYKDQTGNNRVFYGNSDRTSTVQNLLRPPIISRFIRLIPLGWHVRIAIRMELLECVSKCA
Physical form: Solution in phosphate buffered saline, pH 7.4
RIDADR: NONH for all modes of transport