KERA (gene)

From Wikipedia, the free encyclopedia

Keratocan

Identifiers

KERA; CNA2; SLRR2B

External IDs

OMIM: 603288 MGI: 1202398 HomoloGene: 5106

Gene ontology
Molecular Function:	• molecular_function • protein binding
Cellular Component:	• proteinaceous extracellular matrix
Biological Process:	• visual perception • response to stimulus

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_007035 (mRNA)
NP_008966 (protein)

NM_008438 (mRNA)
NP_032464 (protein)

Location

Chr 12: 89.97 - 89.98 Mb

Chr 10: 97.04 - 97.04 Mb

Pubmed search

[1]

[2]

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]

[edit] References

^ ^a ^b Entrez Gene: KERA keratocan.

[edit] 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.