COL3A1


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COL3A1

A gene on chromosome 2q32.2 that encodes the pro-alpha1 chains of type-3 collagen, a fibrillar collagen found in extensible connective tissues (e.g., skin, lung, uterus, intestine and the vascular system), often in association with type-1 collagen.

Molecular pathology
COL3A1 mutations occur in Ehlers-Danlos syndrome type IV, and in aortic and arterial aneurysms.
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Human fibroblasts with mutations in COL5A1 and COL3A1 genes do not organize collagens and fibronectin in the extracellular matrix, down-regulate alpha2beta1 integrin, and recruit alphavbeta3 Instead of alpha5beta1 integrin.
Her COL3A1 mutation is a missense variant (G547R) which results in the substitution of arginine for glycine in the pro-collagen molecule.
As a consequence, the downregulation of COL1A1, COL3A1, and elastin proteins induced by mechanical damage was significantly reversed in the TGF-[beta]1-pretreated group than the nonpretreated group after strain.
Caption: Figure 5: Gene expression by RT-qPCR of COL1A1, COL3A1, EGF, FGF-2, and TGF-fi1 in skin wounds treated for 3, 7, and 14 days with Lanette, Collagenase, 10% EH, or 10% OR.
Moreover, the study confirmed the final effector molecules under negative regulation by miR-29 were COL1A1 , COL1A2 , and COL3A1 .
However, the examination identified the COL3A1 gene mutation, and so the Ehlers-Danlos syndrome type IV (vascular type) was diagnosed.
The genes CoL1A2, COL3A1, CoL6A1, COL6A3 and COL7A1 have been identified as definite TGF-[beta] targets which are induced in fibroblasts at early stages of the disease.
By this analysis, SureSelect had 7 genes [SDHD, TGFBR2 (transforming growth factor, 3 receptor II [70/80 kDa]), GLA (galactosidase, a), SDHC(succinate dehydrogenase complex, subunit C, integral membrane protein, 15 kDa), COL3A1 (collagen, type III, a1), PMS2, PSCK9] for which >50% of HGMD variant locations had inadequate coverage.
(97) Polymorphisms in the following genes have been observed in populations with LL (or forms of disease close to the LL side of the spectrum): SLC11A1 (solute carrier family member 1), COL3A1 (procollagen III a I), CTLA4 (cytotoxic T lymphocyte-associated antigen), TLR2 (toll-like receptor 2), MICA/HLA B haplotype, TNF-[alpha], TNF-[alpha]-LTA (lymphotoxin [alpha]) haplotype, complement component 4B, and VDR (vitamin D receptor).
No se planteo la necesidad de hacer pruebas moleculares adicionales para otros genes (TGFBR1/2, COL3A1) ni biopsia de colageno, como lo sugiere la nosologia, pues los hallazgos clinicos del paciente, sugestivos de SM, son compatibles con la mutacion patologica presentada (correlacion genotipo/fenotipo para SM).
[6,7,10-12] The [alpha]1 chains of types III and XII collagen are encoded by the COL3A1 and COL12A1 genes, respectively.
The primers for COL1 Al, COL3A1, a-SMA, MCP-1, IL-6 and GAPDH were obtained from MWG Biotech.