MFAP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | MFAP2 , MAGP, MAGP-1, MAGP1, microfibrillar associated protein 2, microfibril associated protein 2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 156790 MGI: 99559 HomoloGene: 1801 GeneCards: MFAP2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Microfibrillar-associated protein 2 is a protein that in humans is encoded by the MFAP2 gene. [5] [6]
Microfibrillar-associated protein 2 is a major antigen of elastin-associated microfibrils and a candidate for involvement in the etiology of inherited connective tissue diseases. This gene encodes two transcripts with two alternatively spliced 5' untranslated exons. These two transcripts contain the same eight coding exons, and therefore, encode the same protein. [6]
Elastin is a protein that in humans is encoded by the ELN gene. Elastin is a key component of the extracellular matrix in gnathostomes. It is highly elastic and present in connective tissue allowing many tissues in the body to resume their shape after stretching or contracting. Elastin helps skin to return to its original position when it is poked or pinched. Elastin is also an important load-bearing tissue in the bodies of vertebrates and used in places where mechanical energy is required to be stored.
Elastic fibers are an essential component of the extracellular matrix composed of bundles of proteins (elastin) which are produced by a number of different cell types including fibroblasts, endothelial, smooth muscle, and airway epithelial cells. These fibers are able to stretch many times their length, and snap back to their original length when relaxed without loss of energy. Elastic fibers include elastin, elaunin and oxytalan.
Fibrillin is a glycoprotein, which is essential for the formation of elastic fibers found in connective tissue. Fibrillin is secreted into the extracellular matrix by fibroblasts and becomes incorporated into the insoluble microfibrils, which appear to provide a scaffold for deposition of elastin.
Selectin P ligand, also known as SELPLG or CD162, is a human gene.
Integrin beta-3 (β3) or CD61 is a protein that in humans is encoded by the ITGB3 gene. CD61 is a cluster of differentiation found on thrombocytes.
Fibrillin-1 is a protein that in humans is encoded by the FBN1 gene, located on chromosome 15. It is a large, extracellular matrix glycoprotein that serves as a structural component of 10-12 nm calcium-binding microfibrils. These microfibrils provide force bearing structural support in elastic and nonelastic connective tissue throughout the body. Mutations altering the protein can result in a variety of phenotypic effects differing widely in their severity, including fetal death, developmental problems, Marfan syndrome or in some cases Weill-Marchesani syndrome.
Galectin-3-binding protein is a protein that in humans is encoded by the LGALS3BP gene.
Filamin B, beta (FLNB), also known as Filamin B, beta , is a cytoplasmic protein which in humans is encoded by the FLNB gene.
Fibulin-2 is a protein that in humans is encoded by the FBLN2 gene.
Latent-transforming growth factor beta-binding protein 1 is a protein that in humans is encoded by the LTBP1 gene.
Glycoprotein V (platelet) (GP5) also known as CD42d (Cluster of Differentiation 42d), is a human gene.
Ficolin-1, and also commonly termed M-ficolin is a protein that in humans is encoded by the FCN1 gene.
Latent-transforming growth factor beta-binding protein 2 is a protein that in humans is encoded by the LTBP2 gene.
Elastin microfibril interfacer 1 (EMILIN-1) is a protein that in humans is encoded by the EMILIN1 gene. It is the best characterized member of the EMILIN family of extracellular matrix glycoproteins.
Tankyrase-2 is an enzyme that in humans is encoded by the TNKS2 gene.
Rh family, B glycoprotein, also known as RHBG, is an ammonia transporter protein which in humans is encoded by the RHBG gene.
Zinc finger and BTB domain-containing protein 7B is a protein that in humans is encoded by the ZBTB7B gene. ZFP67 is an early growth response gene that encodes a zinc finger-containing transcription factor that binds to the promoter regions of type I collagen genes and has a role in development.[supplied by OMIM]
Guanine nucleotide-binding protein subunit alpha-11 is a protein that in humans is encoded by the GNA11 gene. Together with GNAQ, it functions as a Gq alpha subunit.
Microfibrillar-associated protein 5 is a protein that in humans is encoded by the MFAP5 gene.
MFAP4 is an extracellular matrix protein encoded by the MFAP4 gene. It is part of the MFAP family of proteoglycans, which are involved in cell adhesion, intercellular interactions and the assembly and/or maintenance of elastic fibres.