Rabbit anti-Human COL6A1 Polyclonal Antibody | anti-COL6A1 antibody
COL6A1, NT (Collagen alpha-1(VI) Chain) (MaxLight 405)
FLISA: 1:1,000
Applications are based on unconjugated antibody.
Western Blot (WB)
(Western blot analysis of COL6A1 antibody (N-term) in A2058 cell line lysates (35ug/lane). COL6A1 (arrow) was detected using the purified Pab.)
Immunohistochemistry (IHC)
(Formalin-fixed and paraffin-embedded human hepatocarcinoma with COL6A1 Antibody (N-term), which was peroxidase-conjugated to the secondary antibody, followed by DAB staining. This data demonstrates the use of this antibody for immunohistochemistry; clinical relevance has not been evaluated.)
NCBI and Uniprot Product Information
Uniprot Description
COL6A1: Collagen VI acts as a cell-binding protein. Defects in COL6A1 are a cause of Bethlem myopathy (BM). 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 COL6A1 are a cause of Ullrich congenital muscular dystrophy (UCMD); 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. Belongs to the type VI collagen family.
Protein type: Extracellular matrix; Secreted, signal peptide; Secreted
Chromosomal Location of Human Ortholog: 21q22.3
Cellular Component: extracellular matrix; proteinaceous extracellular matrix; protein complex; membrane; lysosomal membrane; endoplasmic reticulum lumen; extracellular region; sarcolemma; collagen type VI
Molecular Function: platelet-derived growth factor binding
Biological Process: osteoblast differentiation; axon guidance; extracellular matrix disassembly; collagen catabolic process; extracellular matrix organization and biogenesis; cell adhesion
Disease: Bethlem Myopathy; Ullrich Congenital Muscular Dystrophy