CTF1

Chr 16

cardiotrophin 1

NCBI Gene: 1489 ENSG00000150281 UniProt: Q16619 OMIM: 600435

The protein is a secreted cytokine that induces cardiac myocyte hypertrophy and activates the ILST/gp130 receptor. Mutations cause cardiofaciocutaneous syndrome, a RASopathy characterized by congenital heart defects, distinctive facial features, and skin abnormalities with autosomal dominant inheritance. The gene is not highly constrained against loss-of-function variants.

OMIM ResearchSummary from RefSeq, UniProt

Functions as a cytokine that binds to the LIF receptor complex (PubMed:8833032). The LIF receptor complex indeed consists of two signaling receptor subunits IL6ST/gp130 and LIFR that transduce the signal into the cell (By similarity). Functionally, acts as a potent cardiac survival factor, and promotes cardiomyocyte proliferation and hypertrophy (PubMed:8833032). Mechanistically, ligand binding to LIFR, induces heterodimerization with IL6ST/gp130 activating JAK tyrosine kinases (JAK1 or JAK2 and to a lesser extent TYK2) bound to their intracellular domains (By similarity). These kinases subsequently phosphorylate IL6ST/gp130 and LIFR (By similarity). The tyrosine phosphorylated signaling receptors serve in turn as docking sites for recruitment and activation of signal transducer and activator of transcription STAT3 (By similarity)

OMIM ResearchGenerating clinical summary…