TGFB3 gene

transforming growth factor beta 3

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. This protein is involved in embryogenesis and cell differentiation, and may play a role in wound healing. Mutations in this gene are a cause of aortic aneurysms and dissections, as well as familial arrhythmogenic right ventricular dysplasia 1. [provided by RefSeq, Aug 2016]

From UniProt:

Involved in embryogenesis and cell differentiation.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Arrhythmogenic right ventricular dysplasia, familial 1
  • Loeys-Dietz syndrome 5

From UniProt:

Arrhythmogenic right ventricular dysplasia, familial, 1 (ARVD1): A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. [MIM:107970]

Loeys-Dietz syndrome 5 (LDS5): A form of Loeys-Dietz syndrome, a syndrome with widespread systemic involvement characterized by arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. LDS5 additional variable features include mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity. LDS5 patients do not manifest remarkable aortic or arterial tortuosity, and there is no strong evidence for early aortic dissection. [MIM:615582]

Cytogenetic Location: 14q24, which is the long (q) arm of chromosome 14 at position 24

Molecular Location: base pairs 75,958,097 to 75,982,022 on chromosome 14 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 14q24, which is the long (q) arm of chromosome 14 at position 24
  • ARVD
  • ARVD1
  • LDS5
  • RNHF
  • TGF-beta3