Protein-coding gene in the species Homo sapiens
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]
^ a b c GRCh38: Ensembl release 89: ENSG00000188770 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000010311 – 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 .^ 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 . ^ a b "Entrez Gene: OPTC opticin" . 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. doi :10.1159/000049497 . PMID 11641609 . S2CID 45610233 . 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. doi :10.1093/hmg/11.11.1333 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. Bibcode :2002PNAS...9916899M . doi :10.1073/pnas.242603899 PMC 139241 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. doi :10.1136/bjo.2003.031989 . PMC 1772128 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 . PMC 528928 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 . PMC 1850943 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 PMC 1838427 PMID 17359525 .
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