COL5A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | COL5A2 , EDSC, collagen type V alpha 2, collagen type V alpha 2 chain, EDSCL2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 120190 MGI: 88458 HomoloGene: 20119 GeneCards: COL5A2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Collagen alpha-2(V) chain is a protein that in humans is encoded by the COL5A2 gene. [5] [6]
This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, classical type, formerly known as types I and II. [6]
Collagen is the main structural protein in the extracellular matrix found in the body's various connective tissues. As the main component of connective tissue, it is the most abundant protein in mammals, making up from 25% to 35% of the whole-body protein content. Collagen consists of amino acids bound together to form a triple helix of elongated fibril known as a collagen helix. It is mostly found in connective tissue such as cartilage, bones, tendons, ligaments, and skin. Collagen makes up 30% of the protein found in the Human body. Vitamin E improves the production of collagen.
A disintegrin and metalloproteinase with thrombospondin motifs 2 (ADAM-TS2) also known as procollagen I N-proteinase is an enzyme that in humans is encoded by the ADAMTS2 gene.
Collagen, type I, alpha 1, also known as alpha-1 type I collagen, is a protein that in humans is encoded by the COL1A1 gene. COL1A1 encodes the major component of type I collagen, the fibrillar collagen found in most connective tissues, including cartilage.
Collagen alpha-2(XI) chain is a protein that in humans is encoded by the COL11A2 gene.
Bone morphogenetic protein 1, also known as BMP1, is a protein which in humans is encoded by the BMP1 gene. There are seven isoforms of the protein created by alternate splicing.
Collagen alpha-1 (XXVII) chain (COL27A1) is a protein that in humans is encoded by the COL27A1 gene.
Type III Collagen is a homotrimer, or a protein composed of three identical peptide chains (monomers), each called an alpha 1 chain of type III collagen. Formally, the monomers are called collagen type III, alpha-1 chain and in humans are encoded by the COL3A1 gene. Type III collagen is one of the fibrillar collagens whose proteins have a long, inflexible, triple-helical domain.
Type I collagen is the most abundant collagen of the human body, consisting of around 90% of the body's total collagen in vertebrates. Due to this, it is also the most abundant protein type found in all vertebrates. Type I forms large, eosinophilic fibers known as collagen fibers, which make up most of the rope-like dense connective tissue in the body. Collagen I itself is created by the combination of both a proalpha1 and a proalpha2 chain created by the COL1alpha1 and COL1alpha2 genes respectively. The Col I gene itself takes up a triple-helical conformation due to its Glycine-X-Y structure, x and y being any type of amino acid. Collagen can also be found in two different isoforms, either as a homotrimer or a heterotrimer, both of which can be found during different periods of development. Heterotrimers, in particular, play an important role in wound healing, and are the dominant isoform found in the body.
Type V collagen is a form of fibrillar collagen associated with classical Ehlers-Danlos syndrome. It is found within the dermal/epidermal junction, placental tissues, as well as in association with tissues containing type I collagen.
Collagen alpha-1(V) chain is a protein that in humans is encoded by the COL5A1 gene.
Collagen alpha-2(I) chain is a protein that in humans is encoded by the COL1A2 gene.
Collagen alpha-5(IV) chain is a protein that in humans is encoded by the COL4A5 gene.
Collagen alpha-1(IX) chain is a protein that in humans is encoded by the COL9A1 gene.
Collagen alpha-1(XI) chain is a protein that in humans is encoded by the COL11A1 gene.
Collagen alpha-2(IX) chain is a protein that in humans is encoded by the COL9A2 gene.
Prolyl 4-hydroxylase subunit alpha-1 is an enzyme that in humans is encoded by the P4HA1 gene.
Procollagen C-endopeptidase enhancer 1 is an enzyme that in humans is encoded by the PCOLCE gene.
Collagen alpha-1(XIII) chain is a protein that in humans is encoded by the COL13A1 gene.
Procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 is an enzyme that in humans is encoded by the PLOD3 gene.
Collagen alpha-3(V) chain is a protein that in humans is encoded by the COL5A3 gene.