Gene Review:
Col3a1 - collagen, type III, alpha 1
Mus musculus
Synonyms:
AW550625, Col3a-1, Collagen alpha-1(III) chain, MMS10-W, Ms10w, ...
- Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV. Schwarze, U., Schievink, W.I., Petty, E., Jaff, M.R., Babovic-Vuksanovic, D., Cherry, K.J., Pepin, M., Byers, P.H. Am. J. Hum. Genet. (2001)
- Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development. Liu, X., Wu, H., Byrne, M., Krane, S., Jaenisch, R. Proc. Natl. Acad. Sci. U.S.A. (1997)
- Characterization of a region-specific library of microclones in the vicinity of the Bcg and splotch loci on mouse chromosome 1. Epstein, D.J., Bardeesy, N., Vidal, S., Malo, D., Weith, A., Vekemans, M., Gros, P. Genomics (1994)
- Mapping of Col3a1 and Col6a3 to proximal murine chromosome 1 identifies conserved linkage of structural protein genes between murine chromosome 1 and human chromosome 2q. Schurr, E., Skamene, E., Morgan, K., Chu, M.L., Gros, P. Genomics (1990)
- Transcriptional activation of alpha 1(III) procollagen gene in Tsk2/+ dermal fibroblasts. Christner, P.J., Yufit, T., Peters, J., McGrath, R., Conway, R.F., Jiménez, S.A. Biochem. Biophys. Res. Commun. (2003)