ELISA/assay

Porcine Collagen Type II ELISA Kit

MBS043774

96 Strip Wells

600 USD

ELISA Kit

Porcine Collagen Type II ELISA Kit

Collagen Type II

collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital), isoform CRA_e; Collagen alpha-1(II) chain; collagen alpha-1(II) chain; collagen alpha-1(II) chain; chondrocalcin; cartilage collagen; alpha-1 type II collagen; collagen II, alpha-1 polypeptide; arthroophthalmopathy, progressive (Stickler syndrome); collagen, type II, alpha 1; Alpha-1 type II collagen

COL2

COL2A1; COL2A1; AOM; ANFH; SEDC; STL1; COL11A3

CO2A1_HUMAN

Porcine

1487

Store all reagents at 2-8 degree C

ELISA Type: Sandwich

119578374

EAW57970.1

P02458

141,785 Da

Amoebiasis Pathway 167324!!Amoebiasis Pathway 167191!!Assembly Of Collagen Fibrils And Other Multimeric Structures Pathway 730306!!Collagen Biosynthesis And Modifying Enzymes Pathway 645289!!Collagen Formation Pathway 645288!!ECM-receptor Interaction Pathway 83068!!ECM-receptor Interaction Pathway 479!!Endochondral Ossification Pathway 198812!!Extracellular Matrix Organization Pathway 576262!!Focal Adhesion Pathway 198795

This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008]

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. Subunit structure: Homotrimers of alpha 1(II) chains. Subcellular location: Secreted extracellular space extracellular matrix . By similarity. Tissue specificity: Isoform 2 is highly expressed in juvenile chondrocyte and low in fetal chondrocyte. Ref.11. Domain: 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. Post-translational modification: 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. 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. Ref.22 Ref.23 Ref.42 Ref.43 Ref.46 Ref.48 Ref.56 Ref.59Spondyloepimetaphyseal 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. Ref.38 Ref.50 Ref.65Achondrogenesis 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. Ref.33 Ref.47 Ref.48 Ref.49 Ref.57 Ref.58 Ref.69Legg-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. Ref.70Kniest 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. Ref.45 Ref.52Primary avascular necrosis of femoral head (ANFH) [MIM:608805]: Causes disability that often requires surgical intervention. Most cases are sporadic, but families in which there is an autosomal dominant inheritance of the disease have been identified. It has been estimated that 300,000 to 600,000 people in the United States have ANFH. Approximately 15,000 new cases of this common and disabling disorder are reported annually. The age at the onset is earlier than that for osteoarthritis. The diagnosis is typically made when patients are between the ages of 30 and 60 years. The clinical manifestations, such as pain on exertion, a limping gait, and a discrepancy in leg length, cause considerable disability. Moreover, nearly 10 percent of the 500,000 total-hip arthroplasties performed each year in the United States involve patients with ANFH. As a result, this disease creates a substantial socioeconomic cost as well as a burden for patients and their families.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.67Osteoarthritis with mild chondrodysplasia (OACD) [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. Ref.34 Ref.35 Ref.39 Ref.48Platyspondylic 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. Ref.58 Ref.63 Ref.64Multiple 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. Ref.53Spondyloperipheral 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. 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. Ref.37 Ref.44 Ref.55 Ref.68 Ref.73 Ref.75Stickler 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. Ref.37 Ref.68 Ref.73Rhegmatogenous 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. Ref.55 Ref.66Czech 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. Ref.41 Ref.48 Ref.71 Ref.74. Sequence similarities: Belongs to the fibrillar collagen family.Contains 1 fibrillar collagen NC1 domain.Contains 1 VWFC domain. Sequence caution: The sequence AAH07252.1 differs from that shown. Reason: Frameshift at position 1198.

96 Strip Wells

600 USD