Cell Biology Antibodies 13
Anti-COL9A1 Antibody (CAB17460)
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- SKU:
- CAB17460
- Product Type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Reactivity:
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Cell Biology
Description
| Antibody Name: | Anti-COL9A1 Antibody |
| Antibody SKU: | CAB17460 |
| Antibody Size: | 20uL, 50 uL |
| Application: | WB |
| Reactivity: | Human, Mouse, Rat |
| Host Species: | Rabbit |
| Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 20-270 of human COL9A1 (NP_001842.3). |
| Application: | WB |
| Recommended Dilution: | WB 1:500 - 1:2000 |
| Reactivity: | Human, Mouse, Rat |
| Positive Samples: |
| Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 20-270 of human COL9A1 (NP_001842.3). |
| 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: | WASA AVKR RPRF PVNS NSNG GNEL CPKI RIGQ DDLP GFDL ISQF QVDK AASR RAIQ RVVG SATL QVAY KLGN NVDF RIPT RNLY PSGL PEEY SFLT TFRM TGST LKKN WNIW QIQD SSGK EQVG IKIN GQTQ SVVF SYKG LDGS LQTA AFSN LSSL FDSQ WHKI MIGV ERSS ATLF VDCN RIES LPIK PRGP IDID GFAV LGKL ADNP QVSV PFEL QWML IHCD PLRP RRET CHEL PARI TPSQ TTDE RGP |
| Gene ID: | 1297 |
| Uniprot: | P20849 |
| Cellular Location: | |
| Calculated MW: | 35kDa/64kDa/91kDa |
| Observed MW: | Refer to figures |
| Synonyms: | COL9A1, DJ149L1.1.2, EDM6, MED, STL4 |
| Background: | This gene encodes one of the three alpha chains of type IX collagen, which is a minor (5-20%) collagen component of hyaline cartilage. Type IX collagen is usually found in tissues containing type II collagen, a fibrillar collagen. Studies in knockout mice have shown that synthesis of the alpha 1 chain is essential for assembly of type IX collagen molecules, a heterotrimeric molecule, and that lack of type IX collagen is associated with early onset osteoarthritis. Mutations in this gene are associated with osteoarthritis in humans, with multiple epiphyseal dysplasia, 6, a form of chondrodysplasia, and with Stickler syndrome, a disease characterized by ophthalmic, orofacial, articular, and auditory defects. Two transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] |
| UniProt Protein Function: | COL9A1: Structural component of hyaline cartilage and vitreous of the eye. Defects in COL9A1 are the cause of multiple epiphyseal dysplasia type 6 (EDM6). A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal. Defects in COL9A1 are the cause of Stickler syndrome type 4 (STL4). 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. 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. Belongs to the fibril-associated collagens with interrupted helices (FACIT) family. 3 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Protein type:Secreted, signal peptide; Secreted Chromosomal Location of Human Ortholog: 6q13 Cellular Component: proteinaceous extracellular matrix; endoplasmic reticulum lumen; extracellular region Molecular Function:metal ion binding; extracellular matrix structural constituent conferring tensile strength Biological Process: collagen catabolic process; extracellular matrix disassembly; axon guidance; extracellular matrix organization and biogenesis; organ morphogenesis; tissue homeostasis Disease: Stickler Syndrome, Type Iv; Epiphyseal Dysplasia, Multiple, 6 |
| NCBI Summary: | This gene encodes one of the three alpha chains of type IX collagen, which is a minor (5-20%) collagen component of hyaline cartilage. Type IX collagen is usually found in tissues containing type II collagen, a fibrillar collagen. Studies in knockout mice have shown that synthesis of the alpha 1 chain is essential for assembly of type IX collagen molecules, a heterotrimeric molecule, and that lack of type IX collagen is associated with early onset osteoarthritis. Mutations in this gene are associated with osteoarthritis in humans, with multiple epiphyseal dysplasia, 6, a form of chondrodysplasia, and with Stickler syndrome, a disease characterized by ophthalmic, orofacial, articular, and auditory defects. Two transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] |
| UniProt Code: | P20849 |
| NCBI GenInfo Identifier: | 296439373 |
| NCBI Gene ID: | 1297 |
| NCBI Accession: | P20849.3 |
| UniProt Secondary Accession: | P20849,Q13699, Q13700, Q5TF52, Q6P467, Q96BM8, Q99225 Q9H151, Q9H152, Q9Y6P2, Q9Y6P3, |
| UniProt Related Accession: | P20849 |
| Molecular Weight: | 921 |
| NCBI Full Name: | Collagen alpha-1(IX) chain |
| NCBI Synonym Full Names: | collagen, type IX, alpha 1 |
| NCBI Official Symbol: | COL9A1 |
| NCBI Official Synonym Symbols: | MED; EDM6; STL4; DJ149L1.1.2 |
| NCBI Protein Information: | collagen alpha-1(IX) chain; collagen alpha-1(IX) chain; alpha-1(IX) collagen chain; collagen IX, alpha-1 polypeptide; cartilage-specific short collagen |
| UniProt Protein Name: | Collagen alpha-1(IX) chain |
| Protein Family: | Collagen |
| UniProt Gene Name: | COL9A1 |
| UniProt Entry Name: | CO9A1_HUMAN |
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