Retinoschisin (RS)

RS1; XLRS1; Retinoschisis X-Linked,Juvenile 1; X-linked juvenile retinoschisis protein

SPN	N917
HGNC	10457
MGI	1336189
UniProt	O15537
Wiki	RS1

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.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.

Retinoschisis is intraretinal splitting due to degeneration. The abnormality may not be clinically manifest until middle life. Affected males show cystic degeneration leading to split in the retina, detachment of the retina, and finally complete retinal atrophy with sclerosis of the choroid. Cystic maculopathy is sometimes the only finding in these patients.

Reference

"Positional cloning of the gene associated with X-linked juvenile retinoschisis."
Nat. Genet. 17:164-170(1997) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence of the human X chromosome."
Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]

"Mapping of transcription start sites of human retina expressed genes."
BMC Genomics 8:42-42(2007) [PubMed] [Europe PMC] [Abstract]

"Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells."
Hum. Mol. Genet. 9:1873-1879(2000) [PubMed] [Europe PMC] [Abstract]

"RS1, a discoidin domain-containing retinal cell adhesion protein associated with X-linked retinoschisis, exists as a novel disulfide-linked octamer."
J. Biol. Chem. 280:10721-10730(2005) [PubMed] [Europe PMC] [Abstract]

"Japanese juvenile retinoschisis is caused by mutations of the XLRS1 gene."
Hum. Genet. 103:142-144(1998) [PubMed] [Europe PMC] [Abstract]

"Recurrent missense (R197C) and nonsense (Y89X) mutations in the XLRS1 gene in families with X-linked retinoschisis."
Biochem. Biophys. Res. Commun. 256:317-319(1999) [PubMed] [Europe PMC] [Abstract]

"Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis."
Clin. Genet. 55:461-465(1999) [PubMed] [Europe PMC] [Abstract]

"Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland."
Eur. J. Hum. Genet. 7:368-376(1999) [PubMed] [Europe PMC] [Abstract]

"X-linked retinoschisis with a novel substitutive amino acid (P193S) in XLRS1."
Hum. Mutat. 13:259-259(1999)

"Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis."
Hum. Mutat. 13:338-338(1999) [PubMed] [Europe PMC] [Abstract]

"Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change."
Hum. Mutat. 14:423-427(1999) [PubMed] [Europe PMC] [Abstract]

"X-linked retinoschisis in a female with a heterozygous RS1 missense mutation."
Am. J. Med. Genet. A 143:608-609(2007) [PubMed] [Europe PMC] [Abstract]

"Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene."
Mol. Vis. 13:804-812(2007) [PubMed] [Europe PMC] [Abstract]

"Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis."
Mol. Vis. 14:2321-2332(2008) [PubMed] [Europe PMC] [Abstract]