NP_001840.3
[Other Products]
NCBI GenBank Nucleotide #
|
[Other Products]
UniProt Primary Accession #
|
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
87,280 Da
NCBI Official Full Name
collagen alpha-2(VI) chain isoform 2C2
NCBI Official Synonym Full Names
collagen, type VI, alpha 2
NCBI Official Synonym Symbols
NCBI Protein Information
collagen alpha-2(VI) chain; collagen alpha-2(VI) chain; collagen VI, alpha-2 polypeptide; human mRNA for collagen VI alpha-2 C-terminal globular domain
UniProt Protein Name
Collagen alpha-2(VI) chain
UniProt Entry Name
CO6A2_HUMAN
NCBI Summary for COL6A2
This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]
UniProt Comments for COL6A2
COL6A2: Collagen VI acts as a cell-binding protein. Defects in COL6A2 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 COL6A2 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. Defects in COL6A2 are the cause of myosclerosis autosomal recessive (MYOSAR); 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. Belongs to the type VI collagen family. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: Secreted, signal peptide; Secreted; Extracellular matrix
Chromosomal Location of Human Ortholog: 21q22.3
Cellular Component: extracellular matrix; extracellular space; proteinaceous extracellular matrix; collagen; protein complex; endoplasmic reticulum lumen; extracellular region; sarcolemma; vesicle
Molecular Function: protein binding
Biological Process: axon guidance; collagen catabolic process; extracellular matrix disassembly; extracellular matrix organization and biogenesis; response to glucose stimulus; cell adhesion
Disease: Bethlem Myopathy; Ullrich Congenital Muscular Dystrophy; Myosclerosis, Autosomal Recessive
Research Articles on COL6A2
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Pathways associated with COL6A2 blocking peptide
Diseases associated with COL6A2 blocking peptide
Organs/Tissues associated with COL6A2 blocking peptide
|