COL1A1 Recombinant Monoclonal Antibody

Function

This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene.

Background References

1. Dang PN et al. Controlled Dual Growth Factor Delivery From Microparticles Incorporated Within Human Bone Marrow-Derived Mesenchymal Stem Cell Aggregates for Enhanced Bone Tissue Engineering via Endochondral Ossification. Stem Cells Transl Med 5:206-17 (2016).

2. Huang W et al. Astragalus and Paeoniae radix rubra extract inhibits liver fibrosis by modulating the transforming growth factor- /Smad pathway in rats. Mol Med Rep 11:805-14 (2015).

Subcellular Location

Secreted.

UNIPROT

SwissProt: P02452 Human

Synonyms