ABCD2

ATP-binding cassette sub-family D member 2 is a membrane pump/transporter protein that in humans is encoded by the ABCD2 gene.[5][6]

ABCD2
Identifiers
AliasesABCD2, ABC39, ALDL1, ALDR, ALDRP, hALDR, ATP binding cassette subfamily D member 2
External IDsOMIM: 601081 MGI: 1349467 HomoloGene: 55873 GeneCards: ABCD2
Gene location (Human)
Chr.Chromosome 12 (human)[1]
Band12q12Start39,550,033 bp[1]
End39,619,803 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
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 MbChr 15: 91.15 – 91.19 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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.[6]

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.[6]

See also

Interactions

ABCD2 has been shown to interact with PEX19.[7][8]

References

  1. GRCh38: Ensembl release 89: ENSG00000173208 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000055782 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 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.
  6. "Entrez Gene: ABCD2 ATP-binding cassette, sub-family D (ALD), member 2".
  7. 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.
  8. 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

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


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.