TGFBR1

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Transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa)
250px
PDB rendering based on 1b6c.
Available structures
PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB
Identifiers
Symbols TGFBR1 ; ACVRLK4; AAT5; ALK-5; ALK5; SKR4; TGFR-1
External IDs Template:OMIM5 Template:MGI HomoloGene3177
Orthologs
Template:GNF Ortholog box
Species Human Mouse
Entrez n/a n/a
Ensembl n/a n/a
UniProt n/a n/a
RefSeq (mRNA) n/a n/a
RefSeq (protein) n/a n/a
Location (UCSC) n/a n/a
PubMed search n/a n/a

Transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa), also known as TGFBR1, is a human gene.

The protein encoded by this gene forms a heteromeric complex with type II TGF-beta receptors when bound to TGF-beta, transducing the TGF-beta signal from the cell surface to the cytoplasm. The encoded protein is a serine/threonine protein kinase. Mutations in this gene have been associated with Loeys-Dietz aortic aneurysm syndrome (LDAS).[1]

See also

References

  1. "Entrez Gene: TGFBR1 transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa)".

Further reading

  • Massagué J (1992). "Receptors for the TGF-beta family". Cell. 69 (7): 1067–70. PMID 1319842.
  • Wrana JL (1998). "TGF-beta receptors and signalling mechanisms". Mineral and electrolyte metabolism. 24 (2–3): 120–30. PMID 9525694.
  • Josso N, di Clemente N, Gouédard L (2001). "Anti-Müllerian hormone and its receptors". Mol. Cell. Endocrinol. 179 (1–2): 25–32. PMID 11420127.

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