Native Human COL2A1 Protein
Cat.No. : | COL2A1-1648H |
Product Overview : | Human COL2A1 native protein from human nasal septum. |
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Description : | 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, Jul 2008] |
Source : | Human nasal septum |
Species : | Human |
Form : | Lyophilized |
Applications : | SDS-PAGE |
Storage : | Store at -20 centigrade. Aliquot to avoid repeated freezing and thawing. |
Storage Buffer : | No additive |
Tag : | Non |
Gene Name | COL2A1 collagen, type II, alpha 1 [ Homo sapiens ] |
Official Symbol | COL2A1 |
Synonyms | COL2A1; collagen, type II, alpha 1; collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital) , SEDC; collagen alpha-1(II) chain; chondrocalcin; cartilage collagen; alpha-1 type II collagen; collagen II, alpha-1 polypeptide; AOM; ANFH; SEDC; COL11A3; MGC131516; |
Gene ID | 1280 |
mRNA Refseq | NM_001844 |
Protein Refseq | NP_001835 |
MIM | 120140 |
UniProt ID | P02458 |
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Not For Human Consumption!
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