GeneID: 53


Common Name: TGFBR1 Type: Gene
Chromosome: 9 (NC_000009.12) Locus: NG_007461.1  (TGFBR1)
HUGO Symbol: TGFBR1 Full Name: transforming growth factor beta receptor I
Exons: 9 Introns: 8

TGFBR1 is a member of the transforming growth factor β (TGFβ) receptor family of serine/threonine kinases. The binding of TGFβ to type II (TGFBR2) and type I (TGFBR1) receptors mediates the formation of a receptor heterocomplex required for signal transduction. TGFBR2 binds the TGFβ ligand but it requires TGFBF1 for signalling. This receptor/ligand complex recruits and phosphorylates SMAD proteins, which act as transcriptional mediators in the TGFβ signalling pathway to modulate gene transcription. Mutations in this gene have been associated with Loeys-Dietz aortic aneurysm syndrome (LDAS). Polymorphisms in this gene have been associated with glomerular filtration rate and renal damage in patients with sickle cell disease. Multiple transcript variants encoding different isoforms have been found for this gene.

Synonyms: ACVRLK4 , ALK-5


Sequence Viewer

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Publications / Origin

  1. Heldin CH, Miyazono K, ten Dijke P, TGF-beta signalling from cell membrane to nucleus through SMAD proteins., Nature , 390(6659), 465-71, 1997 PubMed
  2. Fertrin KY, Costa FF, Genomic polymorphisms in sickle cell disease: implications for clinical diversity and treatment., Expert Rev Hematol , 3(4), 443-58, 2010 PubMed
  3. Cannaerts E, van de Beek G, Verstraeten A, Van Laer L, Loeys B, TGF-β signalopathies as a paradigm for translational medicine., Eur J Med Genet , 58(12), 695-703, 2015 PubMed
Created on 2016-04-25 17:36:52, Last reviewed on 2018-06-24 16:18:51 (Show full history)

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