Gene Symbol | GDF2 |
Entrez Gene ID | 2658 |
Full Name | growth differentiation factor 2 |
Synonyms | BMP-9,BMP9,HHT5 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(Human) |
Genome | |
Summary | 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 each subunit of the disulfide-linked homodimer. This protein regulates cartilage and bone development, angiogenesis and differentiation of cholinergic central nervous system neurons. Mutations in this gene are associated with hereditary hemorrhagic telangiectasia. [provided by RefSeq, Jul 2016]. |
Disorder MIM: | |
Disorder Html: | Telangiectasia, hereditary hemorrhagic, type 5, 615506 (3) |