Rabbit anti-Human Collagen I/COL1A2 Monoclonal Antibody

Uniprot Id

P08123

Target Species

Human

Target Name

COL1A2

Target Full Name

Collagen alpha-2(I) chain

Target Function

Type I collagen is a member of group I collagen (fibrillar forming collagen).

Target Involvement

Ehlers-Danlos syndrome 7B (EDS7B); Osteogenesis imperfecta 1 (OI1); Osteogenesis imperfecta 2 (OI2); Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form (EDSCV); Osteogenesis imperfecta 3 (OI3); Osteogenesis imperfecta 4 (OI4)

Target Subcellular Location

Secreted, extracellular space, extracellular matrix.

Target Protein Families

Fibrillar collagen family

Target Tissue Specificity

Forms the fibrils of tendon, ligaments and bones. In bones the fibrils are mineralized with calcium hydroxyapatite.

Target Synonyms

OI4; EDSCV; EDSARTH2; Collagen I/COL1A2

Target Background

This gene encodes the pro-alpha2 chain 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 VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene.