TGFBR1


Also found in: Acronyms.

TGFBR1

A gene on chromosome 9q22 that encodes a transmembrane kinase of the TGFB receptor subfamily of Ser/Thr protein kinases, which forms a heteromer with type-II TGF-beta receptors and binds TGF-beta. This receptor/ligand complex phosphorylates proteins which enter the nucleus and regulate transcription of cell proliferation-related genes.

Molecular pathology
TGFBR1 mutations are associated with Loeys-Deitz aortic aneurysm syndrome.
References in periodicals archive ?
40 Receptor Associated Protein 1 TGFBR1 Transforming Growth Factor, Beta 3.
Normally, TGFBR1 messages help block the growth of early tumours of various types.
Interestingly, the reverse happens in the self-healing tumors that have an inherited fault in the TGFBR1 gene.
2-p25 TGF-[beta] receptor (TGFBR2) Loeys-Dietz TGFBR1 syndrome TGFBR2 Ehlers-Danlos Type III syndrome procollagen Familial thoracic Smooth 16p13.
Germline allele-specific expression of TGFBR1 confers an increased risk of colorectal cancer.
According to the study, the disease is caused by faults in a gene called TGFBR1, reports the Telegraph.
They found that the TGFBR1 gene makes a protein through which cells receive messages from their neighbours, instructing them to carry out jobs essential to growth and development.