KERA
Function
May be important in developing and maintaining corneal transparency and for the structure of the stromal matrix.
Involvement in disease
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Binds keratan sulfate chains.
Sequence Similarities
Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class II subfamily.
Tissue Specificity
Cornea (at protein level) (PubMed:10802664, PubMed:11683372). Increased expression in the stroma of keratoconus corneas (PubMed:11683372). Also detected in trachea, and in low levels, in intestine, skeletal muscle, ovary, lung and putamen (PubMed:10802664).
Cellular localization
- Secreted
- Extracellular space
- Extracellular matrix
Alternative names
SLRR2B, KERA, Keratocan, KTN, Keratan sulfate proteoglycan keratocan