ABCD4
Identifiers
AliasesABCD4, ABC41, EST352188, MAHCJ, P70R, P79R, PMP69, PXMP1L, ATP binding cassette subfamily D member 4
External IDsOMIM: 603214 MGI: 1349217 HomoloGene: 3703 GeneCards: ABCD4
Orthologs
SpeciesHumanMouse
Entrez

5826

19300

Ensembl

ENSG00000119688

ENSMUSG00000021240

UniProt

O14678

O89016

RefSeq (mRNA)

NM_005050
NM_020324
NM_020325
NM_020326

NM_008992

RefSeq (protein)

NP_033018

Location (UCSC)n/aChr 12: 84.65 – 84.66 Mb
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

ATP-binding cassette sub-family D member 4 is a protein that in humans is encoded by the ABCD4 gene.[4][5][6]

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, it is speculated that it may function as a heterodimer for another peroxisomal ABC transporter and, therefore, may modify the adrenoleukodystrophy phenotype. It may also play a role in the process of peroxisome biogenesis. Alternative splicing results in at least two different transcript variants, one which is protein-coding and one which is probably not protein-coding.[6]

References

  1. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000021240 - Ensembl, May 2017
  2. ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ↑ Holzinger A, Kammerer S, Roscher AA (Sep 1997). "Primary structure of human PMP69, a putative peroxisomal ABC-transporter". Biochem Biophys Res Commun. 237 (1): 152–7. doi:10.1006/bbrc.1997.7102. PMID 9266848.
  5. ↑ Shani N, Jimenez-Sanchez G, Steel G, Dean M, Valle D (Jan 1998). "Identification of a fourth half ABC transporter in the human peroxisomal membrane". Hum Mol Genet. 6 (11): 1925–31. doi:10.1093/hmg/6.11.1925. PMID 9302272.
  6. 1 2 "Entrez Gene: ABCD4 ATP-binding cassette, sub-family D (ALD), member 4".

Further reading

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


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