Collageen I (COL1A1) (NM 000088) Humaan Recombinant eiwit

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. [provided by R. Dalgleish, Feb 2008]

Purified recombinant protein of Human collagen, type I, alpha 1 (COL1A1), with N-terminal His tag, secretory expressed in HEK293 cells, 50ug

CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4

1277

P02452

NM_000088

17q21.33

HEK293

N-His

ECM-receptor interaction, Focal adhesion

ECM-receptor interaction, Focal adhesion

>50 ug/mL as determined by microplate BCA method

> 90% as determined by SDS-PAGE and Coomassie blue staining

Liquid

PBS, pH7.4, 10% glycerol

Druggable Genome

40.8 kDa

Stable for 1 year at -20°C or below from date of shipment. For maximum recovery of product, centrifuge the original vial after thawing and opening the cap. For long-term storage, aliquot and store at -20°C or below. Avoid repeated freeze-thaw cycles.

COL1A1

Human

NP_000079

https://www.ncbi.nlm.nih.gov/gene/1277

https://www.uniprot.org/uniprot/P02452

https://www.ncbi.nlm.nih.gov/nuccore/NM_000088

https://www.ncbi.nlm.nih.gov/nuccore/NP_000079