Retinoschisin

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Retinoschisin 1
Identifiers
Symbols RS1 ; RS; XLRS1
External IDs OMIM300839 MGI1336189 HomoloGene279 GeneCards: RS1 Gene
RNA expression pattern
PBB GE RS1 207363 at tn.png
PBB GE RS1 216937 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 6247 20147
Ensembl ENSG00000102104 ENSMUSG00000031293
UniProt O15537 Q9Z1L4
RefSeq (mRNA) NM_000330 NM_011302
RefSeq (protein) NP_000321 NP_035432
Location (UCSC) Chr X:
18.66 – 18.69 Mb
Chr X:
160.77 – 160.8 Mb
PubMed search [1] [2]

Retinoschisin also known as X-linked juvenile retinoschisis protein is a protein that in humans is encoded by the RS1 gene.[1][2][3]

Function and Cell Biology[edit]

Retinoschisin is an extracellular protein that plays a crucial role in the cellular organization of the retina. This protein is assembled and secreted from photoreceptors and bipolar cells as a homo-oligomeric protein complex. [3] Monomeric retinoschisin contains 224 amino acids with a leader sequence that is cleaved off upon preparation in the cell for secretion. [1]

Clinical significance[edit]

Mutations in this gene are responsible for X-linked retinoschisis an early-onset macular degeneration in males that results in a splitting of the inner layers of the retina and severe loss in vision.[3]

References[edit]

  1. ^ a b Sauer CG, Gehrig A, Warneke-Wittstock R, Marquardt A, Ewing CC, Gibson A, Lorenz B, Jurklies B, Weber BH (Nov 1997). "Positional cloning of the gene associated with X-linked juvenile retinoschisis". Nat Genet 17 (2): 164–70. doi:10.1038/ng1097-164. PMID 9326935. 
  2. ^ Molday LL, Wu WW, Molday RS (Nov 2007). "Retinoschisin (RS1), the protein encoded by the X-linked retinoschisis gene, is anchored to the surface of retinal photoreceptor and bipolar cells through its interactions with a Na/K ATPase-SARM1 complex". J Biol Chem 282 (45): 32792–801. doi:10.1074/jbc.M706321200. PMID 17804407. 
  3. ^ a b c "Entrez Gene: RS1 retinoschisis (X-linked, juvenile) 1". 


Further reading[edit]

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.