KERA gene

keratocan

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene is a keratan sulfate proteoglycan that is involved in corneal transparency. Defects in this gene are a cause of autosomal recessive cornea plana 2 (CNA2).[provided by RefSeq, May 2010]

From UniProt:

May be important in developing and maintaining corneal transparency and for the structure of the stromal matrix.

From NCBI Gene:

  • Cornea plana 2

From UniProt:

Cornea plana 2, autosomal recessive (CNA2): A severe form of cornea plana, a rare ocular disorder characterized by flattened corneal curvature leading to a decrease in refraction, reduced visual activity, hyperopia, hazy corneal limbus, opacities in the corneal parenchyma, and marked arcus senilis often detected at an early age. CNA2 patients manifest extreme hyperopia and additional ocular anomalies such as malformations of the iris, a slit-like pupil, and adhesions between iris and cornea. [MIM:217300]

Cytogenetic Location: 12q21.33, which is the long (q) arm of chromosome 12 at position 21.33

Molecular Location: base pairs 91,050,491 to 91,058,354 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 12q21.33, which is the long (q) arm of chromosome 12 at position 21.33
  • CNA2
  • KTN
  • SLRR2B