Recombinant Human COL1A2 protein (ab158153)
Key features and details
- Expression system: Wheat germ
- Tags: GST tag N-Terminus
- Suitable for: ELISA, WB
-
Product name
Recombinant Human COL1A2 protein -
Expression system
Wheat germ -
Protein length
Protein fragment -
Animal free
No -
Nature
Recombinant -
-
Species
Human -
Sequence
MRLLANYASQNITYHCKNSIAYMDEETGNLKKAVILQGSNDVELVAEGNS RFTYTVLVDGCSKKTNEWGKTIIEYKTNKPSRLPFLDIAPLDIGGADQEF FVDIGPVCFK -
Amino acids
1257 to 1366 -
Tags
GST tag N-Terminus
-
Preparation and Storage
-
Alternative names
- Alpha 2 collagen type I
- Alpha 2 type I collagen
- Alpha 2 type I procollagen
see all -
Function
Type I collagen is a member of group I collagen (fibrillar forming collagen). -
Tissue specificity
Forms the fibrils of tendon, ligaments and bones. In bones the fibrils are mineralized with calcium hydroxyapatite. -
Involvement in disease
Ehlers-Danlos syndrome 7B
Osteogenesis imperfecta 1
Osteogenesis imperfecta 2
Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form
Osteogenesis imperfecta 3
Osteogenesis imperfecta 4
A chromosomal aberration involving COL1A2 may be a cause of lipoblastomas, which are benign tumors resulting from transformation of adipocytes, usually diagnosed in children. Translocation t(7;8)(p22;q13) with PLAG1. -
Sequence similarities
Belongs to the fibrillar collagen family.
Contains 1 fibrillar collagen NC1 domain. -
Domain
The C-terminal propeptide, also known as COLFI domain, have crucial roles in tissue growth and repair by controlling both the intracellular assembly of procollagen molecules and the extracellular assembly of collagen fibrils. It binds a calcium ion which is essential for its function. -
Post-translational
modificationsProlines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains. -
Cellular localization
Secreted > extracellular space > extracellular matrix. - Information by UniProt