COL3A1


Also found in: Acronyms.

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.
Mentioned in ?
References in periodicals archive ?
To examine the effect of TQ on transactivation, freshly isolated rat HSCs were cultured for 7 days in the presence or absence of TQ and the mRNA expression levels of COL1 Al, COL3A1 and a-SMA genes were determined via qRT-PCR.
In addition to blocking the transactivation of quiescent HSCs, TQ significantly inhibited the fibrogenic activity in fully activated cells: TQ-treated LX2 cells showed significantly reduced mRNA expression levels of COL1A1 and COL3A1 compared to vehicle-treated cells.
The expression of type I and III collagens COL1A1 and COL3A1, and tissue inhibitor of metalloproteinases, TIMP-1 were up-regulated by NF3 significantly, while the expression of MMP-9 gene was down-regulated by NF3 (Fig.
Molecular studies revealed a mutation in the COL3A1 gene, which is consistent with the diagnosis of EDS type IV.