ABCD2

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For Stroke risk assessment in TIA, see ABCD² score.
ATP-binding cassette, sub-family D (ALD), member 2
Identifiers
Symbols ABCD2 ; ABC39; ALDL1; ALDR; ALDRP; hALDR
External IDs OMIM601081 MGI1349467 HomoloGene55873 GeneCards: ABCD2 Gene
RNA expression pattern
PBB GE ABCD2 207583 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 225 26874
Ensembl ENSG00000173208 ENSMUSG00000055782
UniProt Q9UBJ2 Q61285
RefSeq (mRNA) NM_005164 NM_011994
RefSeq (protein) NP_005155 NP_036124
Location (UCSC) Chr 12:
39.94 – 40.01 Mb
Chr 15:
91.15 – 91.19 Mb
PubMed search [1] [2]

ATP-binding cassette sub-family D member 2 is a membrane pump/transporter protein that in humans is encoded by the ABCD2 gene.[1][2]

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.[2]

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.[2]

See also[edit]

Interactions[edit]

ABCD2 has been shown to interact with PEX19.[3][4]

References[edit]

  1. ^ 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): 1265–9. doi:10.1073/pnas.93.3.1265. PMC 40068. PMID 8577752. 
  2. ^ a b c "Entrez Gene: ABCD2 ATP-binding cassette, sub-family D (ALD), member 2". 
  3. ^ 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): 1180–6. doi:10.1006/bbrc.2002.6568. PMID 11883941. 
  4. ^ 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): 144–50. doi:10.1006/bbrc.2000.2572. PMID 10777694. 

Further reading[edit]

External links[edit]

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