In some families autosomal dominant inheritance and point mutations in the TGFBI gene encoding keratoepithelin have been identified,
Human TGF-beta induced Ig-H3 (BIgH3) protein (4 FAS1 domains), where the FAS1 domains mediate cell adhesion through an interaction with alpha3/beta1 integrin; mutation in the FAS1 domains result in corneal dystrophy.
Granular corneal dystrophy is caused by a mutation in the TGFBI gene, located on chromosome 5q31.
It is caused by mutations in TGFBI gene encoding keratoepithelin, which maps to chromosome 5q.
The disease has been associated with mutations in TGFBI gene on chromosome 5q which encodes for keratoepithelin.
TGFBI |