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Rabbit Anti-COL2A1 Antibody (CSB-PA005739ESR1HU)
Supplier: CUSABIO BIOTECH CO.
Alpha-1 type II collagen Antibody,COL2A1 AntibodyMore alternative names for the antibody
AOM antibody|COL11A3 antibody|COL1A2 antibody|COL3A1 antibody|Collagen I alpha 1 polypeptide antibody|Collagen I alpha 2 polypeptide antibody|Collagen II alpha 1 polypeptide antibody|Collagen III alpha 1 polypeptide antibody|EDS4A antibody|OI4 antibody
Anti-Collagen I + II + III antibody [NLI/22] (ab53925)
Anti-Collagen I + II + III antibody [NLI/22] (ab53925)
Recommended applications: ELISA, IHC
Recommended dilution: Recommended dilution:IHC:1:20-1:200
Recommended protocols: check protocols
|Catalogue No.|| |
Recombinant human Collagen alpha-1(II) chain protein (1228-1487AA)
|Recommended dilution|| |
|Molecular weight|| |
Antigen Affinity Purified
Shipped at 4 Celcius Degree. Upon delivery aliquot and store at -20 Celcius Degree or -80 Celcius Degree. Avoid repeated freeze.
|Database links|| |
Entrez Gene:1277( Human), Entrez Gene:1278( Human), Entrez Gene:1280( Human), Entrez Gene:1281( Human), Omim:120140( Human), Omim:120150( Human), Omim:120160( Human), Omim:120180( Human), SwissProt:P02452( Human), SwissProt:P02458( Human), SwissProt:P02461( Human), SwissProt:P08123( Human), Unigene:172928( Human), Unigene:408182( Human), Unigene:443625( Human), Unigene:489142( Human)
|Protein function|| |
Type II collagen is specific for cartilaginous tissues. It is essential for the normal embryonic development of the skeleton, for linear growth and for the ability of cartilage to resist compressive forces.
|Protein tissue specificity|| |
Isoform 2 is highly expressed in juvenile chondrocyte and low in fetal chondrocyte. .
|Involvement in disease|| |
Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]: Disorder characterized by disproportionate short stature and pleiotropic involvement of the skeletal and ocular systems. . Note=The disease is caused by mutations affecting the gene represented in this entry.; Spondyloepiphyseal dysplasia, Stanescu type (SEDSTN) [MIM:616583]: An autosomal dominant spondyloepiphyseal dysplasia characterized by glycoproteins accumulation in chondrocytes. Clinical features include progressive joint contractures, premature degenerative joint disease particularly in the knee, hip and finger joints, and osseous distention of the metaphyseal ends of the phalanges causing swolling of interphalangeal joints of the hands. Radiological features include generalized platyspondyly, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands. . Note=The disease is caused by mutations affecting the gene represented in this entry.; Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK) [MIM:184250]: A bone disease characterized by disproportionate short stature from birth, with a very short trunk and shortened limbs, and skeletal abnormalities including lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses. A distinctive radiographic feature is irregular sclerotic changes, described as dappled in the metaphyses of the long bones. . Note=The disease is caused by mutations affecting the gene represented in this entry.; Achondrogenesis 2 (ACG2) [MIM:200610]: A disease characterized by the absence of ossification in the vertebral column, sacrum and pubic bones. . Note=The disease is caused by mutations affecting the gene represented in this entry.; Legg-Calve-Perthes disease (LCPD) [MIM:150600]: Characterized by loss of circulation to the femoral head, resulting in avascular necrosis in a growing child. Clinical pictures of the disease vary, depending on the phase of disease progression through ischemia, revascularization, fracture and collapse, and repair and remodeling of the bone. . Note=The disease is caused by mutations affecting the gene represented in this entry.; Kniest dysplasia (KD) [MIM:156550]: Moderately severe chondrodysplasia phenotype that results from mutations in the COL2A1 gene. Characteristics of the disorder include a short trunk and extremities, mid-face hypoplasia, cleft palate, myopia, retinal detachment, and hearing loss. . Note=The disease is caused by mutations affecting the gene represented in this entry.; Avascular necrosis of the femoral head, primary (ANFH) [MIM:608805]: A disease characterized by mechanical failure of the subchondral bone, and degeneration of the hip joint. It usually leads to destruction of the hip joint in the third to fifth decade of life. The clinical manifestations, such as pain on exertion, a limping gait, and a discrepancy in leg length, cause considerable disability. . Note=The disease is caused by mutations affecting the gene represented in this entry.; Osteoarthritis with mild chondrodysplasia (OSCDP) [MIM:604864]: Osteoarthritis is a common disease that produces joint pain and stiffness together with radiologic evidence of progressive degeneration of joint cartilage. . Note=The disease is caused by mutations affecting the gene represented in this entry.; Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]: Platyspondylic lethal skeletal dysplasias (PLSDs) are a heterogeneous group of chondrodysplasias characterized by severe platyspondyly and limb shortening. PLSD-T is characterized by varying platyspondyly, short ribs with anterior cupping, hypoplasia of the lower ilia with broad ischial and pubic bones, and shortening of the tubular bones with splayed and cupped metaphyses. Histology of the growth plate typically shows focal hypercellularity with slightly enlarged chondrocytes in the resting cartilage and relatively well-preserved columnar formation and ossification at the chondro-osseous junction. PLSD-T is generally a perinatally lethal disease, but a few long-term survivors have been reported. . Note=The disease is caused by mutations affecting the gene represented in this entry.; Multiple epiphyseal dysplasia with myopia and conductive deafness (EDMMD) [MIM:132450]: A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. EDMMD is an autosomal dominant disorder characterized by epiphyseal dysplasia associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness. . Note=The disease is caused by mutations affecting the gene represented in this entry.; Spondyloperipheral dysplasia (SPD) [MIM:271700]: SPD patients manifest short stature, midface hypoplasia, sensorineural hearing loss, spondyloepiphyseal dysplasia, platyspondyly and brachydactyly. . Note=The disease is caused by mutations affecting the gene represented in this entry.; Stickler syndrome 1 (STL1) [MIM:108300]: An autosomal dominant form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. Ocular disorders may include juvenile cataract, myopia, strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic uveitis. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). Bones are affected by slight platyspondylisis and large, often defective epiphyses. Juvenile joint laxity is followed by early signs of arthrosis. The degree of hearing loss varies among affected individuals and may become more severe over time. Syndrome expressivity is variable. . Note=The disease is caused by mutations affecting the gene represented in this entry.; Stickler syndrome 1 non-syndromic ocular (STL1O) [MIM:609508]: An autosomal dominant form of Stickler syndrome characterized by the ocular signs typically seen in Stickler syndrome type 1 such as cataract, myopia, retinal detachment. Systemic features of premature osteoarthritis, cleft palate, hearing impairment, and craniofacial abnormalities are either absent or very mild. . Note=The disease is caused by mutations affecting the gene represented in this entry.; Rhegmatogenous retinal detachment autosomal dominant (DRRD) [MIM:609508]: A eye disease that most frequently results from a break or tear in the retina that allows fluid from the vitreous humor to enter the potential space beneath the retina. It is often associated with pathologic myopia and in most cases leads to visual impairment or blindness if untreated. . Note=The disease is caused by mutations affecting the gene represented in this entry.; Czech dysplasia (CZECHD) [MIM:609162]: A skeletal dysplasia characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and short third and fourth toes. . Note=The disease is caused by mutations affecting the gene represented in this entry.
|Protein sequence and domain|| |
Belongs to the fibrillar collagen family. The C-terminal propeptide, also known as COLFI domain, have crucial roles in tissue growth and repair by controlling both the intracellular assembly of procollagen molecules and the extracellular assembly of collagen fibrils. It binds a calcium ion which is essential for its function (By similarity).
|Protein post-translational modifications|| |
Probably 3-hydroxylated on prolines by LEPREL1 (By similarity). Proline residues at the third position of the tripeptide repeating unit (G-X-P) are hydroxylated in some or all of the chains. Proline residues at the second position of the tripeptide repeating unit (G-P-X) are hydroxylated in some of the chains. .; The N-telopeptide is covalently linked to the helical COL2 region of alpha 1(IX), alpha 2(IX) and alpha 3(IX) chain. The C-telopeptide is covalently linked to an another site in the helical region of alpha 3(IX) COL2.
|Protein cellular localization|| |
Secreted, extracellular space, extracellular matrix .
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