Collagen, Type VI, alpha 2 (COL6A2) ELISA Kits

COL6A2 encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. Zusätzlich bieten wir Ihnen Collagen, Type VI, alpha 2 Antikörper (58) und Collagen, Type VI, alpha 2 Proteine (5) und viele weitere Produktgruppen zu diesem Protein an.

list all ELISA KIts Gen GeneID UniProt
COL6A2 1292 P12110
COL6A2 12834 Q02788
Anti-Ratte COL6A2 COL6A2 361821  
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Top Collagen, Type VI, alpha 2 ELISA Kits auf antikoerper-online.de

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Katalog Nr. Reaktivität Sensitivität Bereich Bilder Menge Anbieter Lieferzeit Preis Details
Human 0.156 ng/mL 0.625-40 ng/mL Typical standard curve 96 Tests Anmelden zum Anzeigen 15 bis 18 Tage
$910.56
Details
Maus 3.9 pg/mL 15.6-1000 pg/mL   96 Tests Anmelden zum Anzeigen 15 bis 18 Tage
$910.56
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Human
  96 Tests Anmelden zum Anzeigen 2 bis 3 Tage
$380.00
Details

Weitere ELISA Kits für Collagen, Type VI, alpha 2 Interaktionspartner

Human Collagen, Type VI, alpha 2 (COL6A2) Interaktionspartner

  1. Genetic study showed a missense mutation in COL6A2 (c.820 G>A, p.Gly268Ser) that causes a glycine substitution in the Gly-X-Y collagenous motif, at the beginning of the collagenous triple helical domain. The c.820 G>A mutation segregated in all the affected patients.

  2. Parental mosaicism was confirmed in the four families through quantitative analysis of the ratio of mutant versus wild-type allele (COL6A1 (zeige COL6A1 ELISA Kits), COL6A2, and COL6A3 (zeige COL6a3 ELISA Kits)) in genomic DNA from various tissues; consistent with somatic mosaicism, parental samples had lower ratios of mutant versus wild-type allele compared with the fully heterozygote offspring.

  3. Mutations in COL6A2 gene are associated with aberrant mitochondria in Bethlem myopathy.

  4. In UCMD, 8 mutations were identified in COL6A2 in Chinese patients.

  5. Mutations in each of the three collagen VI genes, COL6A1 (zeige COL6A1 ELISA Kits), COL6A2 and COL6A3 (zeige COL6a3 ELISA Kits), cause four types of muscle disorders: Ullrich congenital muscular dystrophy, Bethlem myopathy, limb-girdle muscular dystrophy, and autosomal recessive myosclerosis. (Review)

  6. COL6A2 is overexpressed in Down syndrome-affected umbilical cords at early and term gestational ages.

  7. Homozygous COL6A2 mutation, p.Asp215Asn, was identified in both affected siblings. We conclude that the COL6A2 p.Asp215Asn mutation is likely to be responsible for PME (zeige CSTB ELISA Kits) (Progressive Myoclonus Epilepsy) in this family.

  8. A deletion within intron 1A of the COL6A2 gene, occurring in compound heterozygosity with a small deletion in exon 28, was identified in a BM patient.

  9. the C2A splice variant has a role in recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy

  10. The alpha2(VI) chain modulates matrix-metalloproteinase (MMP) availability by sequestering proMMPs in the extracellular matrix, blocking proteolytic activity.

Mouse (Murine) Collagen, Type VI, alpha 2 (COL6A2) Interaktionspartner

  1. gamma-sarcoglycan (zeige SGCG ELISA Kits)-null/Col6a2Deltaex5 (Col6a2 deficient) mice exhibit reduced muscle pathology compared with gamma-sarcoglycan (zeige SGCG ELISA Kits)-null mice. Specifically, fewer muscle fibers are degenerating, fiber size varies less. Surprisingly, in spite of this reduction in muscle pathology, muscle function is not significantly improved.

Collagen, Type VI, alpha 2 (COL6A2) Antigen-Profil

Beschreibung des Gens

This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene.

Genbezeichner und Symbole assoziert mit COL6A2

  • collagen type VI alpha 2 chain (COL6A2) Antikörper
  • collagen, type VI, alpha 2 (col6a2) Antikörper
  • collagen, type VI, alpha 2 (Tcur_3411) Antikörper
  • collagen, type VI, alpha 2 (Col6a2) Antikörper
  • collagen type VI alpha 2 chain (Col6a2) Antikörper
  • Col6a-2 Antikörper
  • PP3610 Antikörper

Bezeichner auf Proteinebene für COL6A2

collagen alpha-2(VI) chain , alpha 2 type VI collagen , collagen, type VI, alpha 2 , collagen VI, alpha-2 polypeptide , human mRNA for collagen VI alpha-2 C-terminal globular domain , collagen type VI alpha 2 , procollagen, type VI, alpha 2 , type VI collagen alpha-2 subunit

GENE ID SPEZIES
282194 Bos taurus
474056 Pan troglodytes
567771 Danio rerio
709493 Macaca mulatta
100224039 Taeniopygia guttata
8604757 Thermomonospora curvata DSM 43183
100055332 Equus caballus
100602701 Nomascus leucogenys
1292 Homo sapiens
100101552 Sus scrofa
12834 Mus musculus
361821 Rattus norvegicus
396292 Gallus gallus
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