antibody

Rabbit anti-human collagen, type I, alpha 2 polyclonal Antibody

MBS713629

0.05 mL

375 USD

polyclonal

rabbit

nonconjugated

human, mouse, rat

western blot, ELISA, immunohistochemistry, enzyme immunoassay

Antibody

Rabbit anti-human collagen, type I, alpha 2 polyclonal Antibody

collagen, type I, alpha 2

collagen; type I; alpha 2; COL1A2; OI4

Collagen, type I, alpha 2; Collagen alpha-2(I) chain; collagen alpha-2(I) chain; collagen alpha-2(I) chain; type I procollagen; alpha 2(I)-collagen; alpha-2 type I collagen; collagen I, alpha-2 polypeptide; collagen of skin, tendon and bone, alpha-2 chain; collagen, type I, alpha 2; Alpha-2 type I collagen

COL1A2; COL1A2; OI4

CO1A2_HUMAN

Polyclonal

IgG

Rabbit

Human, Mouse, Rat

1366

Antigen Affinity Purified

ELISA (EIA), Western Blot (WB), Immunohistochemistry (IHC)

Immunogen: Human COL1A2

Storage Buffer: PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20 degree C, Avoid freeze / thaw cycles.

45708783

AAH42586.1

129,314 Da

Amoebiasis Pathway (167324); Amoebiasis Pathway (167191); Assembly Of Collagen Fibrils And Other Multimeric Structures Pathway (730306); Binding And Uptake Of Ligands By Scavenger Receptors Pathway (771599); C-MYB Transcription Factor Network Pathway (138073); Collagen Biosynthesis And Modifying Enzymes Pathway (645289); Collagen Formation Pathway (645288); ECM-receptor Interaction Pathway (83068); ECM-receptor Interaction Pathway (479); Endothelins Pathway (137958)

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]

COL1A2: Type I collagen is a member of group I collagen (fibrillar forming collagen). Defects in COL1A2 are the cause of Ehlers-Danlos syndrome type 7B (EDS7B). EDS is a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDS7B is marked by bilateral congenital hip dislocation, hyperlaxity of the joints, and recurrent partial dislocations. Defects in COL1A2 are a cause of osteogenesis imperfecta type 1 (OI1). A dominantly inherited connective tissue disorder characterized by bone fragility and blue sclerae. Osteogenesis imperfecta type 1 is non-deforming with normal height or mild short stature, and no dentinogenesis imperfecta. Defects in COL1A2 are a cause of osteogenesis imperfecta type 2 (OI2); also known as osteogenesis imperfecta congenita (OIC) or lethal perinatal. A connective tissue disorder characterized by bone fragility, with many perinatal fractures, severe bowing of long bones, undermineralization, and death in the perinatal period due to respiratory insufficiency. Defects in COL1A2 are the cause of Ehlers-Danlos syndrome autosomal recessive cardiac valvular form (EDSCV). A connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. In addition to joint laxity, skin hyperextensibility and friability, and abnormal scar formation, patients have mitral valve prolapse and insufficiency, mitral regurgitation, and aortic insufficiency. Defects in COL1A2 are a cause of osteogenesis imperfecta type 3 (OI3). A connective tissue disorder characterized by progressively deforming bones, very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta. Defects in COL1A2 are a cause of osteogenesis imperfecta type 4 (OI4); also known as osteogenesis imperfecta with normal sclerae. A connective tissue disorder characterized by moderately short stature, mild to moderate scoliosis, grayish or white sclera and dentinogenesis imperfecta. A chromosomal aberration 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. Belongs to the fibrillar collagen family. Protein type: Secreted; Secreted, signal peptide. Chromosomal Location of Human Ortholog: 7q22.1. Cellular Component: extracellular matrix; extracellular space; endoplasmic reticulum lumen; extracellular region; collagen type I. Molecular Function: protein binding, bridging; identical protein binding; protein binding; platelet-derived growth factor binding; extracellular matrix structural constituent; metal ion binding; SMAD binding. Biological Process: receptor-mediated endocytosis; blood vessel development; platelet activation; extracellular matrix organization and biogenesis; collagen fibril organization; skin morphogenesis; Rho protein signal transduction; odontogenesis; collagen catabolic process; extracellular matrix disassembly; regulation of blood pressure; transforming growth factor beta receptor signaling pathway; blood coagulation; skeletal development; leukocyte migration. Disease: Ehlers-danlos Syndrome, Type Vii, Autosomal Dominant; Osteogenesis Imperfecta, Type Ii; Ehlers-danlos Syndrome, Autosomal Recessive, Cardiac Valvular Form; Osteogenesis Imperfecta, Type Iii; Osteoporosis; Osteogenesis Imperfecta, Type Iv

0.05 mL

375 USD

0.15 mL

715