Keratocan Explained

Keratocan (KTN) also known as keratan sulfate proteoglycan keratocan, is a protein that in humans is encoded by the KERA gene.^{[1] [2] [3]}

Keratan sulfate proteoglycans (KSPGs) are members of the small leucine-rich proteoglycan (SLRP) family. KSPGs, particularly keratocan, lumican and mimecan, are important to the transparency of the cornea.^[3]

Mutations of the gene cause cornea plana 2.

Further reading

• Kurpakus Wheater M, Kernacki KA, Hazlett LD . Corneal cell proteins and ocular surface pathology. . Biotechnic & Histochemistry . 74 . 3 . 146–59 . 1999 . 10416788 . 10.3109/10520299909047967.
• Tahvanainen E, Forsius H, Karila E, etal . Cornea plana congenita gene assigned to the long arm of chromosome 12 by linkage analysis. . Genomics . 26 . 2 . 290–3 . 1995 . 7601455 . 10.1016/0888-7543(95)80213-6 .
• Bonaldo MF, Lennon G, Soares MB . Normalization and subtraction: two approaches to facilitate gene discovery. . Genome Res. . 6 . 9 . 791–806 . 1997 . 8889548 . 10.1101/gr.6.9.791 . free .
• Tasheva ES, Pettenati M, Von Kap-Her C, Conrad GW . Assignment of keratocan gene (KERA) to human chromosome band 12q22 by in situ hybridization. . Cytogenet. Cell Genet. . 88 . 3–4 . 244–5 . 2000 . 10828599 . 10.1159/000015528 . 31707663 .
• Tasheva ES, Conrad AH, Conrad GW . Identification and characterization of conserved cis-regulatory elements in the human keratocan gene promoter. . Biochim. Biophys. Acta . 1492 . 2–3 . 452–9 . 2000 . 10899581 . 10.1016/s0167-4781(00)00129-9.
• Wentz-Hunter K, Cheng EL, Ueda J, etal . Keratocan expression is increased in the stroma of keratoconus corneas. . Mol. Med. . 7 . 7 . 470–7 . 2002 . 11683372 . 10.1007/BF03401852. 1950054 .
• Lehmann OJ, El-ashry MF, Ebenezer ND, etal . A novel keratocan mutation causing autosomal recessive cornea plana. . Invest. Ophthalmol. Vis. Sci. . 42 . 13 . 3118–22 . 2002 . 11726611 .
• Strausberg RL, Feingold EA, Grouse LH, etal . 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 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
• Khan A, Al-Saif A, Kambouris M . A novel KERA mutation associated with autosomal recessive cornea plana. . Ophthalmic Genet. . 25 . 2 . 147–52 . 2004 . 15370545 . 10.1080/13816810490514397 . 44275816 .
• Gerhard DS, Wagner L, Feingold EA, etal . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 .
• Ebenezer ND, Patel CB, Hariprasad SM, etal . Clinical and molecular characterization of a family with autosomal recessive cornea plana. . Arch. Ophthalmol. . 123 . 9 . 1248–53 . 2005 . 16157807 . 10.1001/archopht.123.9.1248 .
• Liu T, Qian WJ, Gritsenko MA, etal . Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. . J. Proteome Res. . 4 . 6 . 2070–80 . 2006 . 16335952 . 10.1021/pr0502065 . 1850943 .
• Szabó V, Balogh K, Süveges I, etal . The role of lumican and keratocan genes in persistent subepithelial corneal haze following excimer laser photorefractive keratectomy. . Mol. Vis. . 12 . 597–605 . 2006 . 16760896 .
• Khan AO, Aldahmesh M, Meyer B . Recessive cornea plana in the Kingdom of Saudi Arabia. . Ophthalmology . 113 . 10 . 1773–8 . 2006 . 17011957 . 10.1016/j.ophtha.2006.04.026 .
• Aldave AJ, Sonmez B, Bourla N, etal . Autosomal dominant cornea plana is not associated with pathogenic mutations in DCN, DSPG3, FOXC1, KERA, LUM, or PITX2. . Ophthalmic Genet. . 28 . 2 . 57–67 . 2007 . 17558846 . 10.1080/13816810701351321 . 23491990 .
• Liskova P, Hysi PG, Williams D, etal . Study of p.N247S KERA mutation in a British family with cornea plana. . Mol. Vis. . 13 . 1339–47 . 2007 . 17679937 .

Notes and References

1. Tasheva ES, Funderburgh JL, Funderburgh ML, Corpuz LM, Conrad GW . Structure and sequence of the gene encoding human keratocan . DNA Seq . 10 . 1 . 67–74 . Jan 2000 . 10565548 . 10.3109/10425179909033939.
2. Pellegata NS, Dieguez-Lucena JL, Joensuu T, Lau S, Montgomery KT, Krahe R, Kivela T, Kucherlapati R, Forsius H, de la Chapelle A . Mutations in KERA, encoding keratocan, cause cornea plana . Nat Genet . 25 . 1 . 91–5 . Jun 2000 . 10802664 . 10.1038/75664 . 8837115 .
3. Web site: Entrez Gene: KERA keratocan.