KERA (gene)
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Keratocan | |||||||||||
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Identifiers | |||||||||||
Symbols | KERA ; CNA2; SLRR2B | ||||||||||
External IDs | Template:OMIM5 Template:MGI HomoloGene: 5106 | ||||||||||
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RNA expression pattern | |||||||||||
File:PBB GE KERA 220504 at tn.png | |||||||||||
More reference expression data | |||||||||||
Orthologs | |||||||||||
Template:GNF Ortholog box | |||||||||||
Species | Human | Mouse | |||||||||
Entrez | n/a | n/a | |||||||||
Ensembl | n/a | n/a | |||||||||
UniProt | n/a | n/a | |||||||||
RefSeq (mRNA) | n/a | n/a | |||||||||
RefSeq (protein) | n/a | n/a | |||||||||
Location (UCSC) | n/a | n/a | |||||||||
PubMed search | n/a | n/a |
Keratocan, also known as KERA, is a human gene.[1]
Keratan sulfate proteoglycans (KSPGs) are members of the small leucine-rich proteoglycan (SLRP) family. KSPGs, particularly keratocan, lumican (MIM 600616), and mimecan (MIM 602383), are important to the transparency of the cornea.[supplied by OMIM][1]
References
Further reading
- Kurpakus Wheater M, Kernacki KA, Hazlett LD (1999). "Corneal cell proteins and ocular surface pathology". Biotechnic & histochemistry : official publication of the Biological Stain Commission. 74 (3): 146–59. PMID 10416788.
- Tahvanainen E, Forsius H, Karila E; et al. (1995). "Cornea plana congenita gene assigned to the long arm of chromosome 12 by linkage analysis". Genomics. 26 (2): 290–3. PMID 7601455.
- Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. PMID 8889548.
- Tasheva ES, Funderburgh JL, Funderburgh ML; et al. (2000). "Structure and sequence of the gene encoding human keratocan". DNA Seq. 10 (1): 67–74. PMID 10565548.
- Pellegata NS, Dieguez-Lucena JL, Joensuu T; et al. (2000). "Mutations in KERA, encoding keratocan, cause cornea plana". Nat. Genet. 25 (1): 91–5. doi:10.1038/75664. PMID 10802664.
- Tasheva ES, Pettenati M, Von Kap-Her C, Conrad GW (2000). "Assignment of keratocan gene (KERA) to human chromosome band 12q22 by in situ hybridization". Cytogenet. Cell Genet. 88 (3–4): 244–5. PMID 10828599.
- Tasheva ES, Conrad AH, Conrad GW (2000). "Identification and characterization of conserved cis-regulatory elements in the human keratocan gene promoter". Biochim. Biophys. Acta. 1492 (2–3): 452–9. PMID 10899581.
- Wentz-Hunter K, Cheng EL, Ueda J; et al. (2002). "Keratocan expression is increased in the stroma of keratoconus corneas". Mol. Med. 7 (7): 470–7. PMID 11683372.
- Lehmann OJ, El-ashry MF, Ebenezer ND; et al. (2002). "A novel keratocan mutation causing autosomal recessive cornea plana". Invest. Ophthalmol. Vis. Sci. 42 (13): 3118–22. PMID 11726611.
- 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.
- Khan A, Al-Saif A, Kambouris M (2004). "A novel KERA mutation associated with autosomal recessive cornea plana". Ophthalmic Genet. 25 (2): 147–52. doi:10.1080/13816810490514397. PMID 15370545.
- 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.
- Ebenezer ND, Patel CB, Hariprasad SM; et al. (2005). "Clinical and molecular characterization of a family with autosomal recessive cornea plana". Arch. Ophthalmol. 123 (9): 1248–53. doi:10.1001/archopht.123.9.1248. PMID 16157807.
- 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.
- Szabó V, Balogh K, Süveges I; et al. (2006). "The role of lumican and keratocan genes in persistent subepithelial corneal haze following excimer laser photorefractive keratectomy". Mol. Vis. 12: 597–605. PMID 16760896.
- Khan AO, Aldahmesh M, Meyer B (2006). "Recessive cornea plana in the Kingdom of Saudi Arabia". Ophthalmology. 113 (10): 1773–8. doi:10.1016/j.ophtha.2006.04.026. PMID 17011957.
- Aldave AJ, Sonmez B, Bourla N; et al. (2007). "Autosomal dominant cornea plana is not associated with pathogenic mutations in DCN, DSPG3, FOXC1, KERA, LUM, or PITX2". Ophthalmic Genet. 28 (2): 57–67. doi:10.1080/13816810701351321. PMID 17558846.
- Liskova P, Hysi PG, Williams D; et al. (2007). "Study of p.N247S KERA mutation in a British family with cornea plana". Mol. Vis. 13: 1339–47. PMID 17679937.
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