Native Human Collagen VI protein (ab7538)
Key features and details
- Expression system: Native
- Suitable for: WB, IP, ELISA, IHC-P
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Product name
Native Human Collagen VI protein
See all Collagen VI proteins and peptides -
Expression system
Native -
Accession
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Protein length
Full length protein -
Animal free
No -
Nature
Native -
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Species
Human -
Additional sequence information
Prepared from Human Placenta.
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Preparation and Storage
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Alternative names
- Alpha 1 (VI) chain (61 AA)
- CO6A1_HUMAN
- COL6A1
see all -
Function
Collagen VI acts as a cell-binding protein. -
Involvement in disease
Defects in COL6A1 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 COL6A1 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. -
Sequence similarities
Belongs to the type VI collagen family.
Contains 3 VWFA domains. -
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
