KRT12

KRT12 encodes the type I intermediate filament chain keratin 12, expressed in corneal epithelia. Mutations in this gene lead to Meesmann corneal dystrophy. [provided by RefSeq, Jul 2008]

Keratin 12

Involved in corneal epithelium organization, integrity and corneal keratin expression.

Cornea development in camera-type eyeManual Assertion Based On ExperimentIMP:UniProtKB
Morphogenesis of an epitheliumManual Assertion Based On ExperimentIMP:UniProtKB
Visual perceptionManual Assertion Based On ExperimentTAS:ProtInc

Cytosol
Extracellular exosome
Intermediate filament

Corneal dystrophy, Meesmann 1 (MECD1):
A form of Meesmann corneal dystrophy, a corneal disease characterized by fragility of the anterior corneal epithelium. Histological examination shows a disorganized and thickened epithelium with widespread cytoplasmic vacuolation and numerous small, round, debris-laden intraepithelial cysts. Patients are usually asymptomatic until adulthood when rupture of the corneal microcysts may cause erosions, producing clinical symptoms such as photophobia, contact lens intolerance and intermittent diminution of visual acuity. Rarely, subepithelial scarring causes irregular corneal astigmatism and permanent visual impairment. MECD1 inheritance is autosomal dominant.