| ACVR1C |
| LOCUS ID | 130399 | |||||||||||||
| GENE_SYMBOL | ACVR1C | |||||||||||||
| GENE NAME | activin A receptor t | |||||||||||||
| SYNONYMNS | ALK7, ACVRLK7 | |||||||||||||
| CHROMOSOME | 2 | |||||||||||||
| HOMOLOGENE ID | 26724 |
| microRNAs | NA | NA |
| GENE SUMMARY |
|---|
| ACVR1C is a type I receptor for the TGFB (see MIM 190180) family of signaling molecules. Upon ligand binding, type I receptors phosphorylate cytoplasmic SMAD transcription factors, which then translocate to the nucleus and interact directly with D or in complex with other transcription factors (Bondestam et al., 2001 [PubMed 12063393]).[supplied by OMIM, Mar 2008] |
| OBSERVATIONS |
|---|
| Complication | Evidence | PMID |
| Cardiovascular | 1. Activin receptor-like kinase 7 (ALK7), a member of type I transforming growth factor-beta (TGF-beta) receptors, is correlated with pathogenic risks of type 2 diabetes mellitus and cardiovascular diseases and may be involved in cardiovascular remodeling. 2. ALK7 gene silencing has a protective effect on diabetes-induced aortic stiffness, insulin resistance and hyperlipidemia, thus implicating a new potential therapeutic approach to diabetic macrovascular stiffness. | 25577243 |
| Neuropathy | 1. DNA Sequence Variation in ACVR1C Encoding the Activin Receptor-Like Kinase 7 Influences Body Fat Distribution and Protects Against Type 2 Diabetes. | 30389748 |