[{"@context":"http:\/\/schema.org\/","@type":"BlogPosting","@id":"https:\/\/wiki.edu.vn\/en\/wiki24\/abcd2-wikipedia\/#BlogPosting","mainEntityOfPage":"https:\/\/wiki.edu.vn\/en\/wiki24\/abcd2-wikipedia\/","headline":"ABCD2 – Wikipedia","name":"ABCD2 – Wikipedia","description":"From Wikipedia, the free encyclopedia Protein-coding gene in the species Homo sapiens ATP-binding cassette sub-family D member 2 is a","datePublished":"2019-05-09","dateModified":"2019-05-09","author":{"@type":"Person","@id":"https:\/\/wiki.edu.vn\/en\/wiki24\/author\/lordneo\/#Person","name":"lordneo","url":"https:\/\/wiki.edu.vn\/en\/wiki24\/author\/lordneo\/","image":{"@type":"ImageObject","@id":"https:\/\/secure.gravatar.com\/avatar\/c9645c498c9701c88b89b8537773dd7c?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/c9645c498c9701c88b89b8537773dd7c?s=96&d=mm&r=g","height":96,"width":96}},"publisher":{"@type":"Organization","name":"Enzyklop\u00e4die","logo":{"@type":"ImageObject","@id":"https:\/\/wiki.edu.vn\/wiki4\/wp-content\/uploads\/2023\/08\/download.jpg","url":"https:\/\/wiki.edu.vn\/wiki4\/wp-content\/uploads\/2023\/08\/download.jpg","width":600,"height":60}},"image":{"@type":"ImageObject","@id":"https:\/\/en.wikipedia.org\/wiki\/Special:CentralAutoLogin\/start?type=1x1","url":"https:\/\/en.wikipedia.org\/wiki\/Special:CentralAutoLogin\/start?type=1x1","height":"1","width":"1"},"url":"https:\/\/wiki.edu.vn\/en\/wiki24\/abcd2-wikipedia\/","wordCount":3926,"articleBody":"From Wikipedia, the free encyclopediaProtein-coding gene in the species Homo sapiensATP-binding cassette sub-family D member 2 is a membrane pump\/transporter protein that in humans is encoded by the ABCD2 gene.[5][6]Table of ContentsFunction[edit]Clinical significance[edit]See also[edit]Interactions[edit]References[edit]Further reading[edit]External links[edit]Function[edit]The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR\/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and\/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. The function of this peroxisomal membrane protein is unknown; however this protein is speculated to function as a dimerization partner of ABCD1 and\/or other peroxisomal ABC transporters.[6]Clinical significance[edit]Mutations in this gene have been observed in patients with adrenoleukodystrophy, a severe demyelinating disease. This gene has been identified as a candidate for a modifier gene, accounting for the extreme variation among adrenoleukodystrophy phenotypes. This gene is also a candidate for a complement group of Zellweger syndrome, a genetically heterogeneous disorder of peroxisomal biogenesis.[6]See also[edit]Interactions[edit]ABCD2 has been shown to interact with PEX19.[7][8]References[edit]^ a b c GRCh38: Ensembl release 89: ENSG00000173208 – Ensembl, May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000055782 – Ensembl, May 2017^ “Human PubMed Reference:”. National Center for Biotechnology Information, U.S. National Library of Medicine.^ “Mouse PubMed Reference:”. National Center for Biotechnology Information, U.S. National Library of Medicine.^ Lombard-Platet G, Savary S, Sarde CO, Mandel JL, Chimini G (March 1996). “A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression pattern”. Proc Natl Acad Sci U S A. 93 (3): 1265\u20139. Bibcode:1996PNAS…93.1265L. doi:10.1073\/pnas.93.3.1265. PMC\u00a040068. PMID\u00a08577752.^ a b c “Entrez Gene: ABCD2 ATP-binding cassette, sub-family D (ALD), member 2”.^ Mayerhofer PU, Kattenfeld T, Roscher AA, Muntau AC (March 2002). “Two splice variants of human PEX19 exhibit distinct functions in peroxisomal assembly”. Biochem. Biophys. Res. Commun. 291 (5): 1180\u20136. doi:10.1006\/bbrc.2002.6568. PMID\u00a011883941.^ Gloeckner CJ, Mayerhofer PU, Landgraf P, Muntau AC, Holzinger A, Gerber JK, Kammerer S, Adamski J, Roscher AA (April 2000). “Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p”. Biochem. Biophys. Res. Commun. 271 (1): 144\u201350. doi:10.1006\/bbrc.2000.2572. PMID\u00a010777694.Further reading[edit]Petroni A, Cappa M, Carissimi R, Blasevich M, Uziel G (2007). “Effect of testosterone metabolites on ABC half-transporter relative gene expression in X-linked adrenoleukodystrophy”. J. Inherit. Metab. Dis. 30 (5): 828. doi:10.1007\/s10545-007-0591-1. hdl:2434\/142675. PMID\u00a017602313. S2CID\u00a031900837.Weinhofer I, Kunze M, Rampler H, Bookout AL, Forss-Petter S, Berger J (2006). “Liver X receptor alpha interferes with SREBP1c-mediated Abcd2 expression. Novel cross-talk in gene regulation”. J. Biol. Chem. 280 (50): 41243\u201351. doi:10.1074\/jbc.M509450200. PMID\u00a016249184.Mayerhofer PU, Kattenfeld T, Roscher AA, Muntau AC (2002). “Two splice variants of human PEX19 exhibit distinct functions in peroxisomal assembly”. Biochem. Biophys. Res. Commun. 291 (5): 1180\u20136. doi:10.1006\/bbrc.2002.6568. PMID\u00a011883941.Gloeckner CJ, Mayerhofer PU, Landgraf P, Muntau AC, Holzinger A, Gerber JK, Kammerer S, Adamski J, Roscher AA (2000). “Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p”. Biochem. Biophys. Res. Commun. 271 (1): 144\u201350. doi:10.1006\/bbrc.2000.2572. PMID\u00a010777694.Sacksteder KA, Jones JM, South ST, Li X, Liu Y, Gould SJ (2000). “PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis”. J. Cell Biol. 148 (5): 931\u201344. doi:10.1083\/jcb.148.5.931. PMC\u00a02174547. PMID\u00a010704444.Liu LX, Janvier K, Berteaux-Lecellier V, Cartier N, Benarous R, Aubourg P (2000). “Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters”. J. Biol. Chem. 274 (46): 32738\u201343. doi:10.1074\/jbc.274.46.32738. PMID\u00a010551832.Holzinger A, Mayerhofer P, Berger J, Lichtner P, Kammerer S, Roscher AA (1999). “Full length cDNA cloning, promoter sequence, and genomic organization of the human adrenoleukodystrophy related (ALDR) gene functionally redundant to the gene responsible for X-linked adrenoleukodystrophy”. Biochem. Biophys. Res. Commun. 258 (2): 436\u201342. doi:10.1006\/bbrc.1999.0535. PMID\u00a010329405.Holzinger A, Kammerer S, Berger J, Roscher AA (1997). “cDNA cloning and mRNA expression of the human adrenoleukodystrophy related protein (ALDRP), a peroxisomal ABC transporter”. Biochem. Biophys. Res. Commun. 239 (1): 261\u20134. doi:10.1006\/bbrc.1997.7391. PMID\u00a09345306.Savary S, Troffer-Charlier N, Gyapay G, Mattei MG, Chimini G (1997). “Chromosomal localization of the adrenoleukodystrophy-related gene in man and mice”. Eur. J. Hum. Genet. 5 (2): 99\u2013101. doi:10.1159\/000484741. PMID\u00a09195160.External links[edit]This article incorporates text from the United States National Library of Medicine, which is in the public domain.  "},{"@context":"http:\/\/schema.org\/","@type":"BreadcrumbList","itemListElement":[{"@type":"ListItem","position":1,"item":{"@id":"https:\/\/wiki.edu.vn\/en\/wiki24\/#breadcrumbitem","name":"Enzyklop\u00e4die"}},{"@type":"ListItem","position":2,"item":{"@id":"https:\/\/wiki.edu.vn\/en\/wiki24\/abcd2-wikipedia\/#breadcrumbitem","name":"ABCD2 – Wikipedia"}}]}]