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]
Caractéristiques techniques
| Marque | Abnova |
| Réf. B-LABO | BL-RE-056572 |
| Réf. fabricant | 16292170 |
| À utiliser avec (application) | SDS-PAGE |
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| Formule | No additive |
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| Identification génétique (Entrez) | 1280 |
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| Nom | COL2A1 (Human) Native Protein |
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| Méthode de préparation | Native protein purified from human nasal septum |
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| Méthode de purification | Saltprecipitation/Ion Exchange Chromatography/Gelfiltration |
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| Quantité | 1 mg |
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| Conditions de stockage | Store at -20°C. Aliquot to avoid repeated freezing and thawing. |
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| État réglementaire | RUO |
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| Alias de gène | ANFH/AOM/COL11A3/MGC131516/SEDC |
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| Nom usuel | COL2A1 |
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| Symbole de gène(s) | COL2A1 |
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| Espèces | Human |
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| Marqueur de protéine | None |
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| Système d’expression | Native protein purified from human nasal septum |
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| Forme | Lyophilized |
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