Anti-COL9A2 Antibody (CAB17461)
- SKU:
- CAB17461
- Product type:
- Antibody
- Reactivity:
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
Frequently bought together:
Description
| Antibody Name: | Anti-COL9A2 Antibody |
| Antibody SKU: | CAB17461 |
| Antibody Size: | 20uL, 50uL, 100uL |
| Application: | WB |
| Reactivity: | Rat |
| Host Species: | Rabbit |
| Immunogen: | A synthetic peptide of Human COL9A2. |
| Application: | WB |
| Recommended Dilution: | WB 1:500 - 1:2000 |
| Reactivity: | Rat |
| Positive Samples: | Rat liver |
| Immunogen: | A synthetic peptide of Human COL9A2. |
| Purification Method: | Affinity purification |
| Storage Buffer: | Store at -20°C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
| Isotype: | IgG |
| Sequence: | Email for sequence |
| Gene ID: | 1298 |
| Uniprot: | Q14055 |
| Cellular Location: | |
| Calculated MW: | |
| Observed MW: | 65kDa |
 | Western blot - COL9A2 Polyclonal Antibody (CAB17461) |
| Synonyms: | DJ39G22.4, EDM2, MED, STL5, COL9A2 |
| Background: | This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. This chain is unusual in that, unlike the other two type IX alpha chains, it contains a covalently attached glycosaminoglycan side chain. Mutations in this gene are associated with multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008] |
| UniProt Protein Function: | COL9A2: Structural component of hyaline cartilage and vitreous of the eye. Defects in COL9A2 are the cause of multiple epiphyseal dysplasia type 2 (EDM2). EDM is a generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. EDM is broadly categorized into the more severe Fairbank and the milder Ribbing types. EDM2 inheritance is autosomal dominant. Defects in COL9A2 may be a cause of susceptibility to intervertebral disc disease (IDD); also known as lumbar disk herniation (LDH). IDD is one of the most common musculo-skeletal disorders and the predominant cause of low-back pain and unilateral leg pain. Defects in COL9A2 are the cause of Stickler syndrome type 5 (STL5). An autosomal recessive 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. STL5 is characterized by high myopia, vitreoretinal degeneration, retinal detachment, mild to moderate sensorineural hearing loss, short stature in childhood, and absence of cleft palate and Pierre Robin sequence. Belongs to the fibril-associated collagens with interrupted helices (FACIT) family. |
| UniProt Protein Details: | Protein type:Secreted, signal peptide; Secreted Chromosomal Location of Human Ortholog: 1p33-p32 Cellular Component: proteinaceous extracellular matrix; endoplasmic reticulum lumen; extracellular region Molecular Function:extracellular matrix structural constituent conferring tensile strength Biological Process: axon guidance; extracellular matrix disassembly; collagen catabolic process; extracellular matrix organization and biogenesis; skeletal development Disease: Intervertebral Disc Disease; Epiphyseal Dysplasia, Multiple, 2; Stickler Syndrome, Type V |
| NCBI Summary: | This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. This chain is unusual in that, unlike the other two type IX alpha chains, it contains a covalently attached glycosaminoglycan side chain. Mutations in this gene are associated with multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008] |
| UniProt Code: | Q14055 |
| NCBI GenInfo Identifier: | 11386161 |
| NCBI Gene ID: | 1298 |
| NCBI Accession: | NP_001843.1 |
| UniProt Related Accession: | Q14055 |
| Molecular Weight: | |
| NCBI Full Name: | collagen alpha-2(IX) chain |
| NCBI Synonym Full Names: | collagen type IX alpha 2 chain |
| NCBI Official Symbol: | COL9A2 |
| NCBI Official Synonym Symbols: | MED; EDM2; STL5; DJ39G22.4 |
| NCBI Protein Information: | collagen alpha-2(IX) chain |
| UniProt Protein Name: | Collagen alpha-2(IX) chain |
| UniProt Gene Name: | COL9A2 |
| UniProt Entry Name: | CO9A2_HUMAN |
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