KLH conjugated synthetic peptide derived from human Collagen VI alpha 2:601-700/1019
Format:
Liquid
Storage instructions:
Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
Concentration:
1mg/ml
Clonality:
Polyclonal
Isotype:
IgG
Applications:
WB=1:500-2000ELISA=1:5000-10000IHC-P=1:100-500IHC-F=1:100-500ICC=1:100-500IF=1:100-500(Paraffin sections need to do antigen repair)not yet tested in other applications.optimal dilutions/concentrations should be determined by the end user.
Subcellular Location: Secreted > extracellular space > extracellular matrix. Membrane. Recruited on membranes by CSPG4.
Post-translational modifications: Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
DISEASE: Defects in COL6A2 are a cause of Bethlem myopathy (BM) [MIM:158810]. BM is a rare autosomal dominant proximal myopathy characterized by early childhood onset (complete penetrance by the age of 5) and joint contractures most frequently affecting the elbows and ankles.
Defects in COL6A2 are a cause of Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]; also known as Ullrich scleroatonic muscular dystrophy. UCMD is an autosomal recessive congenital myopathy characterized by muscle weakness and multiple joint contractures, generally noted at birth or early infancy. The clinical course is more severe than in Bethlem myopathy.
Defects in COL6A2 are the cause of myosclerosis autosomal recessive (MYOSAR) [MIM:255600]; also known as myosclerotic myopathy or congenital myosclerosis of Lowenthal. A condition characterized by chronic inflammation of skeletal muscle with hyperplasia of the interstitial connective tissue. The clinical picture includes slender muscles with firm 'woody' consistency and restriction of movement of many joints because of muscle contractures.
Similarity: Belongs to the type VI collagen family.
Contains 3 VWFA domains.
Specific References (1) | SL13963R has been referenced in 1 publications.
[IF=1.794] Gao X et al. Alteration and prognostic values of collagen gene expression in patients with gastric cancer under different treatments. Pathol Res Pract. 2020 Mar;216(3):152831. IHSLCP ; Human.