"COL1A1" Related Products

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Native Human COL1A1

Cat.No.: COL1A1-26195TH
Product Overview: Full length native protein (purified) (Human)
Description: This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene.
Source: Native
Tissue specificity: Forms the fibrils of tendon, ligaments and bones. In bones the fibrils are mineralized with calcium hydroxyapatite.
Form: Liquid
Storage buffer: Preservative: 0.01% Sodium AzideConstituents: 0.5M Acetic acid, pH 4.5
Storage: Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.
Sequence Similarities: Belongs to the fibrillar collagen family.Contains 1 fibrillar collagen NC1 domain.Contains 1 VWFC domain.
Gene Name: COL1A1 collagen, type I, alpha 1 [ Homo sapiens ]
Official Symbol: COL1A1
Synonyms: COL1A1; collagen, type I, alpha 1; collagen alpha-1(I) chain; OI4;
Gene ID: 1277
mRNA Refseq: NM_000088
Protein Refseq: NP_000079
Uniprot ID: P02452
Chromosome Location: 17q21.33
Pathway: Amoebiasis, organism-specific biosystem; Amoebiasis, conserved biosystem; Axon guidance, organism-specific biosystem; Cell surface interactions at the vascular wall, organism-specific biosystem; Developmental Biology, organism-specific biosystem;
Function: extracellular matrix structural constituent; identical protein binding; platelet-derived growth factor binding; protein binding;

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