ABCD2

For stroke risk assessment in TIA, see ABCD² score.

For the film, see ABCD 2.

ATP-binding cassette sub-family D member 2 is a membrane pump/transporter protein that in humans is encoded by the ABCD2 gene.

ABCD2
Identifiers
Aliases	ABCD2, ABC39, ALDL1, ALDR, ALDRP, hALDR, ATP binding cassette subfamily D member 2
External IDs	OMIM: 601081; MGI: 1349467; HomoloGene: 55873; GeneCards: ABCD2; OMA:ABCD2 - orthologs
Gene location (Human) Chr. Chromosome 12 (human) Band 12q12 Start 39,550,033 bp End 39,619,803 bp
Gene location (Mouse) Chr. Chromosome 15 (mouse) Band 15|15 E3 Start 91,030,074 bp End 91,076,002 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in testicle cerebellar cortex cerebellar hemisphere right hemisphere of cerebellum ganglionic eminence ventricular zone Achilles tendon prefrontal cortex right auricle adipose tissue Top expressed in white adipose tissue brown adipose tissue granulocyte temporal muscle sternocleidomastoid muscle subcutaneous adipose tissue intercostal muscle triceps brachii muscle digastric muscle ventricular zone More reference expression data BioGPS More reference expression data
Gene ontology Molecular function ATPase-coupled transmembrane transporter activity nucleotide binding ATPase activity protein binding ATP binding protein homodimerization activity long-chain fatty acid transporter activity Cellular component integral component of membrane cytosol peroxisome peroxisomal membrane membrane Biological process positive regulation of fatty acid beta-oxidation very long-chain fatty acid catabolic process fatty acid beta-oxidation very long-chain fatty acid metabolic process transmembrane transport long-chain fatty acid transport myelin maintenance neuron projection maintenance positive regulation of unsaturated fatty acid biosynthetic process negative regulation of cytokine production involved in inflammatory response negative regulation of reactive oxygen species biosynthetic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 225 26874 Ensembl ENSG00000173208 ENSMUSG00000055782 UniProt Q9UBJ2 Q61285 RefSeq (mRNA) NM_005164 NM_011994 NM_001358967 RefSeq (protein) NP_005155 NP_036124 NP_001345896 Location (UCSC) Chr 12: 39.55 – 39.62 Mb Chr 15: 91.03 – 91.08 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Function

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.

Clinical significance

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.

See also

• ATP-binding cassette transporter

Interactions

ABCD2 has been shown to interact with PEX19.

Further reading

• 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 17602313. S2CID 31900837.
• 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): 41243–51. doi:10.1074/jbc.M509450200. PMID 16249184.
• 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): 1180–6. doi:10.1006/bbrc.2002.6568. PMID 11883941.
• 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): 144–50. doi:10.1006/bbrc.2000.2572. PMID 10777694.
• 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): 931–44. doi:10.1083/jcb.148.5.931. PMC 2174547. PMID 10704444.
• 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): 32738–43. doi:10.1074/jbc.274.46.32738. PMID 10551832.
• 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): 436–42. doi:10.1006/bbrc.1999.0535. PMID 10329405.
• Netik A, Forss-Petter S, Holzinger A, Molzer B, Unterrainer G, Berger J (1999). "Adrenoleukodystrophy-related protein can compensate functionally for adrenoleukodystrophy protein deficiency (X-ALD): implications for therapy". Hum. Mol. Genet. 8 (5): 907–13. doi:10.1093/hmg/8.5.907. PMID 10196381.
• 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): 261–4. doi:10.1006/bbrc.1997.7391. PMID 9345306.
• 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): 99–101. doi:10.1159/000484741. PMID 9195160.

External links

• ABCD2+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• Human ABCD2 genome location and ABCD2 gene details page in the UCSC Genome Browser.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.