OPTC
Identifiers
AliasesOPTC, OPT, opticin
External IDsOMIM: 605127 MGI: 2151113 HomoloGene: 8652 GeneCards: OPTC
Orthologs
SpeciesHumanMouse
Entrez

26254

269120

Ensembl

ENSG00000188770

ENSMUSG00000010311

UniProt

Q9UBM4

Q920A0

RefSeq (mRNA)

NM_014359

RefSeq (protein)

NP_055174

Location (UCSC)Chr 1: 203.49 – 203.51 MbChr 1: 133.82 – 133.84 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Opticin is a protein that in humans is encoded by the OPTC gene.[5][6]

Opticin belongs to class III of the small leucine-rich repeat protein (SLRP) family. Members of this family are typically associated with the extracellular matrix. Opticin is present in significant quantities in the vitreous of the eye and also localizes to the cornea, iris, ciliary body, optic nerve, choroid, retina, and fetal liver. Opticin may noncovalently bind collagen fibrils and regulate fibril morphology, spacing, and organization. The opticin gene is mapped to a region of chromosome 1 that is associated with the inherited eye diseases age-related macular degeneration (AMD) and posterior column ataxia with retinosa pigmentosa (AXPC1).[6]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000188770 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000010311 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Reardon AJ, Le Goff M, Briggs MD, McLeod D, Sheehan JK, Thornton DJ, Bishop PN (Feb 2000). "Identification in vitreous and molecular cloning of opticin, a novel member of the family of leucine-rich repeat proteins of the extracellular matrix". J Biol Chem. 275 (3): 2123–9. doi:10.1074/jbc.275.3.2123. PMID 10636917.
  6. 1 2 "Entrez Gene: OPTC opticin".

Further reading


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