Keratocan

Alternative Names

  • KERA

Associated Diseases

Cornea Plana 2
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OMIM Number

603288

NCBI Gene ID

11081

Uniprot ID

O60938

Length

7,534 bases

No. of Exons

3

No. of isoforms

1

Protein Name

Keratocan

Molecular Mass

40509 Da

Amino Acid Count

352

Genomic Location

chr12:91,050,491-91,058,024

Gene Map Locus
12q21.33

Description

The core protein of a major corneal keratan sulfate proteoglycan is encoded by the KERA gene, located on chromosome 12q21.33.  KERA is expressed mainly in the cornea and sclera, and it is also expressed, at lower levels, in the skin, ligaments, cartilage, arteries, and striated muscles.  Keratan sulfate proteoglycan protein may play an important role in developing and maintaining corneal transparency and in forming the structure of the stromal matrix.

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_007035.4:c.835C>TSaudi ArabiaNC_000012.12:g.91055447G>APathogenicCornea Plana 2NG_021223.1:g.7908C>T; NM_007035.4:c.835C>T; NP_008966.1:p.Arg279Ter38683398656550
NM_007035.4:c.937C>TSaudi ArabiaNC_000012.12:g.91051468G>APathogenicPathogenicCornea Plana 2NG_021223.1:g.11887C>T; NM_007035.4:c.937C>T; NP_008966.1:p.Arg313Ter1219178636522
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