| COL6A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | COL6A2 , PP3610, BTHLM1, UCMD1, collagen type VI alpha 2, collagen type VI alpha 2 chain | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 120240 MGI: 88460 HomoloGene: 1392 GeneCards: COL6A2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Collagen alpha-2(VI) chain is a protein that in humans is encoded by the COL6A2 gene. [5]
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 1, Ullrich congenital muscular dystrophy 1, and autosomal recessive myosclerosis myopathy. [6] [7] Three transcript variants have been identified for this gene. [5]
Integrin alpha-1 also CD49a is an integrin alpha subunit encoded in humans by the gene ITGA1. It makes up half of the α1β1 integrin duplex. Though CD49a can bind a number of ligands including collagen IV, collagen I, and others.
Collagen alpha-1(V) chain is a protein that in humans is encoded by the COL5A1 gene.
Collagen alpha-2(V) chain is a protein that in humans is encoded by the COL5A2 gene.
Collagen alpha-5(IV) chain is a protein that in humans is encoded by the COL4A5 gene.
Collagen alpha-3(IV) chain is a protein that in humans is encoded by the COL4A3 gene.
Collagen alpha-2(IV) chain is a protein that in humans is encoded by the COL4A2 gene.
Collagen alpha-1(VI) chain is a protein that in humans is encoded by the COL6A1 gene.
Laminin subunit alpha-1 is a protein that in humans is encoded by the LAMA1 gene.
Laminin subunit beta-1 is a protein that in humans is encoded by the LAMB1 gene.
Collagen alpha-6(IV) chain is a protein that in humans is encoded by the COL4A6 gene.
Alpha-7 integrin is a protein that in humans is encoded by the ITGA7 gene. Alpha-7 integrin is critical for modulating cell-matrix interactions. Alpha-7 integrin is highly expressed in cardiac muscle, skeletal muscle and smooth muscle cells, and localizes to Z-disc and costamere structures. Mutations in ITGA7 have been associated with congenital myopathies and noncompaction cardiomyopathy, and altered expression levels of alpha-7 integrin have been identified in various forms of muscular dystrophy.
Collagen alpha-3(VI) chain is a protein that in humans is encoded by the COL6A3 gene. This protein is an alpha chain of type VI collagen that aids in microfibril formation. As part of type VI collagen, this protein has been implicated in Bethlem myopathy, Ullrich congenital muscular dystrophy (UCMD), and other diseases related to muscle and connective tissue.
Collagen alpha-1(IX) chain is a protein that in humans is encoded by the COL9A1 gene.
Collagen alpha-1(XIV) chain is a protein that in humans is encoded by the COL14A1 gene. It likely plays a role in collagen binding and cell-cell adhesion.
Collagen alpha-3(IX) chain is a protein that in humans is encoded by the COL9A3 gene.
Collagen alpha-2(VIII) chain is a protein that in humans is encoded by the COL8A2 gene. Mutations of the gene are linked to posterior polymorphous dystrophy type 2.
Collagen alpha-1(VIII) chain is a protein that in humans is encoded by the COL8A1 gene.
Collagen alpha-1(XIII) chain is a protein that in humans is encoded by the COL13A1 gene.
Ullrich congenital muscular dystrophy (UCMD) is a form of congenital muscular dystrophy. There are two forms: UCMD1 and UCMD2.
Collagen VI (ColVI) is a type of collagen primarily associated with the extracellular matrix of skeletal muscle. ColVI maintains regularity in muscle function and stabilizes the cell membrane. It is synthesized by a complex, multistep pathway that leads to the formation of a unique network of linked microfilaments located in the extracellular matrix (ECM). ColVI plays a vital role in numerous cell types, including chondrocytes, neurons, myocytes, fibroblasts, and cardiomyocytes. ColVI molecules are made up of three alpha chains: α1(VI), α2(VI), and α3(VI). It is encoded by 6 genes: COL6A1, COL6A2, COL6A3, COL6A4, COL6A5, and COL6A6. The chain lengths of α1(VI) and α2(VI) are about 1,000 amino acids. The chain length of α3(VI) is roughly a third larger than those of α1(VI) and α2(VI), and it consists of several spliced variants within the range of 2,500 to 3,100 amino acids.
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