Retinoschisin: Difference between revisions
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[[Image:3jd6.jpg|thumb|326px|right|Retinoschisin homo16mer, Human]] |
[[Image:3jd6.jpg|thumb|326px|right|Retinoschisin homo16mer, Human]] |
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{{Infobox_gene}} |
{{Infobox_gene}} |
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'''Retinoschisin''' also known as '''X-linked juvenile retinoschisis protein''' is a [[lectin |
'''Retinoschisin''' also known as '''X-linked juvenile retinoschisis protein''' is a [[lectin]<ref name="Vijayasarathy_2012">{{cite journal | vauthors = Vijayasarathy C, Ziccardi L, Sieving PA | title = Biology of retinoschisin | journal = Advances in Experimental Medicine and Biology | volume = 723 | issue = | pages = 513–8 | date = 2012 | pmid = 22183371 | pmc = 3475158 | doi = 10.1007/978-1-4614-0631-0_64 }}</ref> that in humans is encoded by the ''RS1'' [[gene]].<ref name="pmid9326935">{{cite journal |vauthors=Sauer CG, Gehrig A, Warneke-Wittstock R, Marquardt A, Ewing CC, Gibson A, Lorenz B, Jurklies B, Weber BH | title = Positional cloning of the gene associated with X-linked juvenile retinoschisis | journal = Nat Genet | volume = 17 | issue = 2 | pages = 164–70 |date=Nov 1997 | pmid = 9326935 | pmc = | doi = 10.1038/ng1097-164 }}</ref> |
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==Function and Cell Biology== |
==Function and Cell Biology== |
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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.<ref name="pmid17804407">{{cite journal |vauthors=Molday LL, Wu WW, Molday RS | title = 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 | journal = |
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.<ref name="pmid17804407">{{cite journal | vauthors = Molday LL, Wu WW, Molday RS | title = 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 | journal = The Journal of Biological Chemistry | volume = 282 | issue = 45 | pages = 32792–801 | date = November 2007 | pmid = 17804407 | pmc = | doi = 10.1074/jbc.M706321200 }}</ref> Monomeric retinoschisin contains 224 amino acids with a leader sequence that is cleaved off upon preparation in the cell for secretion.<ref name="pmid9326935" /> |
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==Clinical significance== |
==Clinical significance== |
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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. |
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.<ref>{{cite book | vauthors = Weber BH, Kellner U | chapter = X-Linked Juvenile Retinoschisis | veditors = Tombran-Tink J, Barnstable C |title=Retinal Degenerations: Biology, Diagnostics, and Therapeutics |date=2007 | pages = 119–135 | publisher=Springer Science & Business Media | isbn = 978-1-59745-186-4 }}</ref> |
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==References== |
==References== |
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Revision as of 18:33, 9 October 2018
Retinoschisin also known as X-linked juvenile retinoschisis protein is a [[lectin][5] that in humans is encoded by the RS1 gene.[6]
Function and Cell Biology
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.[7] Monomeric retinoschisin contains 224 amino acids with a leader sequence that is cleaved off upon preparation in the cell for secretion.[6]
Clinical significance
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.[8]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000102104 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031293 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Vijayasarathy C, Ziccardi L, Sieving PA (2012). "Biology of retinoschisin". Advances in Experimental Medicine and Biology. 723: 513–8. doi:10.1007/978-1-4614-0631-0_64. PMC 3475158. PMID 22183371.
- ^ 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.
- ^ Molday LL, Wu WW, Molday RS (November 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". The Journal of Biological Chemistry. 282 (45): 32792–801. doi:10.1074/jbc.M706321200. PMID 17804407.
{{cite journal}}: CS1 maint: unflagged free DOI (link) - ^ Weber BH, Kellner U (2007). "X-Linked Juvenile Retinoschisis". In Tombran-Tink J, Barnstable C (eds.). Retinal Degenerations: Biology, Diagnostics, and Therapeutics. Springer Science & Business Media. pp. 119–135. ISBN 978-1-59745-186-4.
Further reading
External links
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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