TGFB3

Name

transforming growth factor beta 3

Type

protein-coding

Position

75,958,097–75,983,026 (−)

Aliases

ARVD, ARVD1, LDS5, RNHF, TGF-beta3

Ensembl

ENSG00000119699

RefSeq RNA

NM_001329938.2, NM_001329939.2, NM_003239.5

RefSeq protein

NP_001316867.1, NP_001316868.1, NP_003230.1

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].

via MyGene.info

Wikidata facts

Image

Protein TGFB3 PDB 1ktz.png

via Wikidata · CC0