OPTC

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Opticin
Identifiers
Symbol(s) OPTC; OPT
External IDs OMIM: 605127 MGI: 2151113 HomoloGene: 8652
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 26254 269120
Ensembl ENSG00000188770 ENSMUSG00000010311
Uniprot Q9UBM4 Q4KL49
Refseq NM_014359 (mRNA)
NP_055174 (protein)		 NM_054076 (mRNA)
NP_473417 (protein)
Location Chr 1: 201.73 - 201.74 Mb Chr 1: 135.71 - 135.72 Mb
Pubmed search [1] [2]

Opticin, also known as OPTC, is a human gene.[1]

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).[1]

[edit] References

  1. ^ a b Entrez Gene: OPTC opticin.

[edit] Further reading

  • Reardon AJ, Le Goff M, Briggs MD, et al. (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. PMID 10636917. 
  • Hobby P, Wyatt MK, Gan W, et al. (2000). "Cloning, modeling, and chromosomal localization for a small leucine-rich repeat proteoglycan (SLRP) family member expressed in human eye.". Mol. Vis. 6: 72–8. PMID 10837509. 
  • Friedman JS, Ducharme R, Raymond V, Walter MA (2000). "Isolation of a novel iris-specific and leucine-rich repeat protein (oculoglycan) using differential selection.". Invest. Ophthalmol. Vis. Sci. 41 (8): 2059–66. PMID 10892843. 
  • Armerding D, Fuhlbrigge RC, Kieffer JD, Kupper TS (2001). "Tonsillar B cells do not express PSGL-1, but a significant fraction displays the cutaneous lymphocyte antigen and exhibits effective E- and P-selectin ligand activity.". Int. Arch. Allergy Immunol. 126 (1): 78–90. PMID 11641609. 
  • Friedman JS, Faucher M, Hiscott P, et al. (2002). "Protein localization in the human eye and genetic screen of opticin.". Hum. Mol. Genet. 11 (11): 1333–42. PMID 12019215. 
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932. 
  • Le Goff MM, Hindson VJ, Jowitt TA, et al. (2003). "Characterization of opticin and evidence of stable dimerization in solution.". J. Biol. Chem. 278 (46): 45280–7. doi:10.1074/jbc.M303117200. PMID 12951322. 
  • Ramesh S, Bonshek RE, Bishop PN (2004). "Immunolocalisation of opticin in the human eye.". The British journal of ophthalmology 88 (5): 697–702. PMID 15090426. 
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334. 
  • Liu T, Qian WJ, Gritsenko MA, et al. (2006). "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.". J. Proteome Res. 4 (6): 2070–80. doi:10.1021/pr0502065. PMID 16335952. 
  • Acharya M, Mookherjee S, Bhattacharjee A, et al. (2007). "Evaluation of the OPTC gene in primary open angle glaucoma: functional significance of a silent change.". BMC Mol. Biol. 8: 21. doi:10.1186/1471-2199-8-21. PMID 17359525. 
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