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Keratocan

KERA
Identifiers
AliasesKERA, CNA2, KTN, SLRR2B, keratocan
External IDsOMIM: 603288 MGI: 1202398 HomoloGene: 5106 GeneCards: KERA
Gene location (Human)
Chromosome 12 (human)
Chr.Chromosome 12 (human)[1]
Chromosome 12 (human)
Genomic location for KERA
Genomic location for KERA
Band12q21.33Start91,050,491 bp[1]
End91,057,983 bp[1]
RNA expression pattern
PBB GE KERA 220504 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_007035

NM_008438

RefSeq (protein)

NP_008966

NP_032464

Location (UCSC)Chr 12: 91.05 – 91.06 MbChr 10: 97.61 – 97.61 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Keratocan (KTN) also known as keratan sulfate proteoglycan keratocan, is a protein that in humans is encoded by the KERA gene.[5][6][7]

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.[7]

Mutations of the gene cause cornea plana 2.

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000139330 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000019932 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ Tasheva ES, Funderburgh JL, Funderburgh ML, Corpuz LM, Conrad GW (Jan 2000). "Structure and sequence of the gene encoding human keratocan". DNA Seq. 10 (1): 67–74. doi:10.3109/10425179909033939. PMID 10565548.
  6. ^ Pellegata NS, Dieguez-Lucena JL, Joensuu T, Lau S, Montgomery KT, Krahe R, Kivela T, Kucherlapati R, Forsius H, de la Chapelle A (Jun 2000). "Mutations in KERA, encoding keratocan, cause cornea plana". Nat Genet. 25 (1): 91–5. doi:10.1038/75664. PMID 10802664.
  7. ^ a b "Entrez Gene: KERA keratocan".

Further reading