Molecular weight (DA)
125kD
Immunogen
The antiserum was produced against synthesized peptide derived from human Collagen I alpha2. AA range:471-520
Specificity
COL1A2 Polyclonal Antibody detects endogenous levels of COL1A2 protein.
Formulation
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Dilution rate
Western Blot: 1/500 - 1/2000. Immunohistochemistry: 1/100 - 1/300. Immunofluorescence: 1/200 - 1/1000. ELISA: 1/20000. Not yet tested in other applications.
Purification process (Immunogen)
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
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. [provided by R. Dalgleish, Feb 2008],
Function
disease:A chromosomal rearrangement involving COL1A2 may be a cause of lipoblastomas, which are benign tumors resulting from transformation of adipocytes, usually diagnosed in children. Translocation t(7;8)(p22;q13) with PLAG1.,disease:Defects in COL1A2 are a cause of osteogenesis imperfecta type I (OI-I) [MIM:166200]. OI-I is a dominantly inherited serious newborn disease characterized by bone fragility, normal stature, little or no deformity, blue sclerae and hearing loss in 50% of families. Dentinogenesis imperfecta is rare and may distinguish a subset of OI type I (formation of dentine).,disease:Defects in COL1A2 are a cause of osteogenesis imperfecta type II (OI-II) [MIM:166210]; also known as osteogenesis imperfecta congenita (OIC) or lethal perinatal. OI-II is a serious newborn disease that diffusely affects bone. Infants are born with multiple fractures, which lead to shortening
Protein name
Collagen alpha-2(I) chain
Other name
COL1A2; Collagen alpha-2(I) chain; Alpha-2 type I collagen
Fields
>>PI3K-Akt signaling pathway;>>Focal adhesion;>>ECM-receptor interaction;>>Platelet activation;>>Relaxin signaling pathway;>>AGE-RAGE signaling pathway in diabetic complications;>>Protein digestion and absorption;>>Amoebiasis;>>Human papillomavirus infection;>>Proteoglycans in cancer;>>Diabetic cardiomyopathy
Human protein sequence Database
P08123
Mouse protein sequence database
Q01149
Rat protein sequence database
Cellular localization
Secreted, extracellular space, extracellular matrix .
Tissue expression
Forms the fibrils of tendon, ligaments and bones. In bones the fibrils are mineralized with calcium hydroxyapatite.
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