Our COL1A1/PDGFB Dual Color Probe is designed to detect fusions between COL1A1 and PDGFB. The probe comes labeled in orange and green, but can be customized to meet your needs.
** This product is for in vitro and research use only. This product is not intended for diagnostic use.
Gene Summary
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. [provided by R. Dalgleish, Feb 2008]
Gene Details
Gene Symbol: COL1A1
Gene Name: Collagen Type I Alpha 1 Chain
Chromosome: CHR17: 48261456-48279000
Locus: 17q21.33