| COL6A3 |
| LOCUS ID | 1293 | ||||||||||
| GENE_SYMBOL | COL6A3 | ||||||||||
| GENE NAME | collagen type VI alp | ||||||||||
| SYNONYMNS | DYT27 UCMD1 BTHLM1 | ||||||||||
| CHROMOSOME | 2 | ||||||||||
| HOMOLOGENE ID | 37917 |
| microRNAs | NA | NA |
| GENE SUMMARY |
|---|
| This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matr |
| OBSERVATIONS |
|---|
| Complication | Evidence | PMID |
| Insulin resistance and inflammation | 1. COL6A3 knockdown (by COL6A3 shRNA) increased triglyceride content, lipolysis, insulin-induced Akt phosphorylation, and mRNA expression of key adipogenic genes (peroxisome proliferator-activated receptor-?, glucose transporter, adiponectin, and fatty acid binding protein), indicating increased adipocyte function and insulin sensitivity. | 27312141 |