Gene Symbol | GDF1 |
Entrez Gene ID | 2657 |
Full Name | growth differentiation factor 1 |
Synonyms | DORV,DTGA3,RAI |
General protein information |
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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. Studies in rodents suggest that this protein is involved in the establishment of left-right asymmetry in early embryogenesis and in neural development in later embryogenesis. The encoded protein is translated from a bicistronic mRNA that also encodes ceramide synthase 1. Mutations in this gene are associated with several congenital cardiovascular malformations. [provided by RefSeq, Jul 2016]. |
Disorder MIM: | |
Disorder Html: | Double-outlet right ventricle, 217095 (3); Tetralogy of Fallot, 187500 (3); Transposition of great arteries, dextro-looped 3, 613854 (3); Right atrial isomerism, 208530 (3) |