Synonyms for tgfbi or Related words with tgfbi

tagln              plaur              cebpd              nfib              thbd              cklf              tyrobp              pdgfb              postn              hemgn              pdgfc              rragd              nfic              vcan              hnrnpc              vegfb              ptprk              prkaca              pdgfrl              pdgfa              srgn              oplah              nucks              hbegf              ptgis              narfl              procr              nudc              tnxb              tpbg              ywhab              dgka              nfkbie              nfkbib              ptprd              emcn              ptprc              heph              myof              frzb              mdfic              snrpa              ptprm              dgkb              lpxn              agrn              syncrip              enah              hhip              tdrkh             

Examples of "tgfbi"
The gene TGFBI encodes the protein keratoepithelin.
Transforming growth factor, 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.
Some cases of it are linked to chromosome 10q24, others stem from a mutation in the TGFBI gene.
The disease has been associated with mutations in TGFBI gene on chromosome 5q which encodes for keratoepithelin. The inheritance is autosomal dominant.
Different corneal dystrophies are caused by mutations in the CHST6, KRT3, KRT12, PIP5K3, SLC4A11, TACSTD2, TGFBI, and UBIAD1 genes. Mutations in TGFB1 which encodes "transforming growth factor beta" cause several forms of corneal dystrophies including granular corneal dystrophy, lattice corneal dystrophy, epithelial basement membrane dystrophy, Reis-Bucklers corneal dystrophy, and Thiel–Behnke dystrophy.
In some families autosomal dominant inheritance and point mutations in the TGFBI gene encoding keratoepithelin have been identified, but according to the International Committee for Classification of Corneal Diseases (IC3D) the available data still does not merit a confident inclusion of EBMD in the group of corneal dystrophies. In view of this, the more accurate designation of the disease is possibly not dystrophy but "corneal degeneration".
Granular corneal dystrophy is caused by a mutation in the TGFBI gene, located on chromosome 5q31. The disorder is inherited in an autosomal dominant manner. This indicates that the defective gene responsible for the disorder is located on an autosome (chromosome 5 is an autosome), and only one copy of the gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.