beta-induced, 68kDa, also known as TGFBI (initially called BIGH3, BIG-H3), is a protein which in humans is encoded by the TGFBI gene, locus 5q31. This gene encodes...
9 KB (1,145 words) - 06:47, 3 December 2023
in the CHST6, KRT3, KRT12, PIP5K3, SLC4A11, TACSTD2, TGFBI, and UBIAD1 genes. Mutations in TGFBI which encodes transforming growth factor beta induced...
15 KB (1,603 words) - 13:02, 12 March 2024
some families autosomal dominant inheritance and point mutations in the TGFBI gene encoding keratoepithelin have been identified, but according to the...
5 KB (512 words) - 22:44, 19 September 2022
types: type I: with no systemic association. It is caused by mutations in TGFBI gene encoding keratoepithelin, which maps to chromosome 5q. type II or Finnish...
8 KB (849 words) - 23:18, 20 September 2022
[citation needed] Granular corneal dystrophy is caused by a mutation in the TGFBI gene, located on chromosome 5q31. The disorder is inherited in an autosomal...
4 KB (396 words) - 23:08, 19 September 2022
and type 3. Type 1 is also known as Biber-Haab-Dimmer corneal dystrophy, TGFBI type Lattice Dystrophy, or Classic Lattice Dystrophy. LCD type II is not...
24 KB (2,624 words) - 12:14, 13 June 2024
Corneodesmosin Hypotrichosis simplex of the scalp ACor C-terminal fragments of TGFBI/Keratoepithelin Lattice corneal dystrophy type I, Lattice corneal dystrophy...
60 KB (6,532 words) - 08:17, 4 July 2024
O43294 16600 TGFB2 HGNC:11768 P61812 16601 TGFB3 HGNC:11769 P10600 16602 TGFBI HGNC:11771 Q15582 16603 TGFBR1 HGNC:11772 P36897 16604 TGFBR2 HGNC:11773...
242 KB (17 words) - 23:17, 27 April 2024
Tubulin-specific chaperone A TCOF1: Treacher Collins-Franceschetti syndrome 1 TGFBI: keratoepithelin THG1L: Probable tRNA(His) guanylyltransferase TICAM2: TIR...
32 KB (2,298 words) - 22:55, 28 March 2024
cornea is not present. The disease has been associated with mutations in TGFBI gene on chromosome 5q which encodes for keratoepithelin. The inheritance...
5 KB (465 words) - 22:14, 1 July 2023