Recombinant Human Collagen alpha-3 (IX) chain (COL9A3)

Code CSB-YP614510HU
MSDS
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Source Yeast
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Code CSB-EP614510HU
MSDS
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Source E.coli
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Code CSB-EP614510HU-B
MSDS
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Source E.coli
Conjugate Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
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Code CSB-BP614510HU
MSDS
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Source Baculovirus
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Code CSB-MP614510HU
MSDS
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Source Mammalian cell
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Product Details

Purity
>85% (SDS-PAGE)
Target Names
COL9A3
Uniprot No.
Alternative Names
COL9A3Collagen alpha-3(IX) chain
Species
Homo sapiens (Human)
Expression Region
26-684
Target Protein Sequence
QRVGL PGPPGPPGPP GKPGQDGIDG EAGPPGLPGP PGPKGAPGKP GKPGEAGLPG LPGVDGLTGR DGPPGPKGAP GERGSLGPPG PPGLGGKGLP GPPGEAGVSG PPGGIGLRGP PGPSGLPGLP GPPGPPGPPG HPGVLPEGAT DLQCPSICPP GPPGPPGMPG FKGPTGYKGE QGEVGKDGEK GDPGPPGPAG LPGSVGLQGP RGLRGLPGPL GPPGDRGPIG FRGPPGIPGA PGKAGDRGER GPEGFRGPKG DLGRPGPKGT PGVAGPSGEP GMPGKDGQNG VPGLDGQKGE AGRNGAPGEK GPNGLPGLPG RAGSKGEKGE RGRAGELGEA GPSGEPGVPG DAGMPGERGE AGHRGSAGAL GPQGPPGAPG VRGFQGQKGS MGDPGLPGPQ GLRGDVGDRG PGGAAGPKGD QGIAGSDGLP GDKGELGPSG LVGPKGESGS RGELGPKGTQ GPNGTSGVQG VPGPPGPLGL QGVPGVPGIT GKPGVPGKEA SEQRIRELCG GMISEQIAQL AAHLRKPLAP GSIGRPGPAG PPGPPGPPGS IGHPGARGPP GYRGPTGELG DPGPRGNQGD RGDKGAAGAG LDGPEGDQGP QGPQGVPGTS KDGQDGAPGE PGPPGDPGLP GAIGAQGTPG ICDTSACQGA VLGGVGEKSG SRSS
Protein Length
Full Length of Mature Protein
Tag Info
Tag type will be determined during the manufacturing process.
The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
Form
Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
Buffer before Lyophilization
Tris/PBS-based buffer, 6% Trehalose, pH 8.0
Reconstitution
We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Troubleshooting and FAQs
Storage Condition
Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life
The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
Lead Time
Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
Notes
Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet
Please contact us to get it.

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Target Background

Function
Structural component of hyaline cartilage and vitreous of the eye.
Gene References into Functions
  1. rs61734651 variant in COL9A3 was not significantly associated with a predisposition to lumbar disc degeneration. PMID: 29506578
  2. In an Iranian population, we observed a 5.8-fold increase in the odds of degenerative disc disease in males when the Trp3 allele was present PMID: 27798555
  3. A novel missense mutation was identified in a family diagnosed with multiple epiphyseal dysplasia. PMID: 25381065
  4. Here, we describe the first autosomal recessive Stickler family due to loss of function mutations (c.1176_1198del, p.Gln393Cysfs*25) of COL9A3 gene. These findings extend further the role of collagen genes family in the disease pathogenesis. PMID: 24273071
  5. We report an 81% mutation detection rate for pseudoachondroplasia, of which COMP+Col9A3 mutations were more prevalent (61%) than COMP mutations alone (30%). PMID: 21042783
  6. Patients with COL9A3 in-frame deletion of three amino acid residues (G181-P183 del) and missense mutation (D617E) showed moderate progressive bilateral sensorineural hearing impairment in all frequencies. PMID: 15917166
  7. a fragment of collagen type IX alpha chain is found in 34% of newborns with ureteropelvic junction obstruction, and in 100% of normals. PMID: 17701042

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Involvement in disease
Multiple epiphyseal dysplasia 3 (EDM3); Intervertebral disc disease (IDD)
Subcellular Location
Secreted, extracellular space, extracellular matrix.
Protein Families
Fibril-associated collagens with interrupted helices (FACIT) family
Database Links

HGNC: 2219

OMIM: 120270

KEGG: hsa:1299

STRING: 9606.ENSP00000341640

UniGene: Hs.716639

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