ABCD4

Last updated
ABCD4
Identifiers
Aliases ABCD4 , ABC41, EST352188, MAHCJ, P70R, P79R, PMP69, PXMP1L, ATP binding cassette subfamily D member 4
External IDs OMIM: 603214 MGI: 1349217 HomoloGene: 3703 GeneCards: ABCD4
RNA expression pattern
PBB GE ABCD4 203982 s at fs.png

PBB GE ABCD4 203981 s at fs.png
More reference expression data
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/a Chr 12: 84.6 – 84.62 Mb
PubMed search [2] [3]
Wikidata
View/Edit Human View/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]

Related Research Articles

ATP-binding cassette transporter

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ABCD1

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ABCA1

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ABCG2

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ABCG1 Mammalian protein found in Homo sapiens

ATP-binding cassette sub-family G member 1 is a protein that in humans is encoded by the ABCG1 gene. It is a homolog of the well-known Drosophila gene white.

ABCG5

ATP-binding cassette sub-family G member 5 is a protein that in humans is encoded by the ABCG5 gene.

ABCG8

ATP-binding cassette sub-family G member 8 is a protein that in humans is encoded by the ABCG8 gene.

ABCA2

ATP-binding cassette sub-family A member 2 is a protein that in humans is encoded by the ABCA2 gene.

ABCD3

ATP-binding cassette sub-family D member 3 is a protein that in humans is encoded by the ABCD3 gene.

ABCB9

ATP-binding cassette sub-family B member 9 is a protein that in humans is encoded by the ABCB9 gene.

ABCA7

ATP-binding cassette sub-family A member 7 is a protein that in humans is encoded by the ABCA7 gene.

ABCA3

ATP-binding cassette sub-family A member 3 is a protein that in humans is encoded by the ABCA3 gene.

ABCB6

ATP-binding cassette super-family B member 6, mitochondrial is a protein that in humans is encoded by the ABCB6 gene.

ABCD2

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

ABCG4

ATP-binding cassette sub-family G member 4 is a protein that in humans is encoded by the ABCG4 gene.

ABCA8

ATP-binding cassette sub-family A member 8 is a protein that in humans is encoded by the ABCA8 gene.

ABCB8

ATP-binding cassette sub-family B member 8, mitochondrial is a protein that in humans is encoded by the ABCB8 gene.

ABCC12

Multidrug resistance-associated protein 9 is a protein that in humans is encoded by the ABCC12 gene.

ABCA9

ATP-binding cassette sub-family A member 9 is a protein that in humans is encoded by the ABCA9 gene.

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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