ABCD4

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ATP-binding cassette, sub-family D (ALD), member 4
Identifiers
Symbols ABCD4 ; ABC41; EST352188; MAHCJ; P70R; P79R; PMP69; PXMP1L
External IDs OMIM603214 MGI1349217 HomoloGene3703 GeneCards: ABCD4 Gene
RNA expression pattern
PBB GE ABCD4 203981 s at tn.png
PBB GE ABCD4 203982 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 5826 19300
Ensembl ENSG00000119688 ENSMUSG00000021240
UniProt O14678 O89016
RefSeq (mRNA) NM_005050 NM_008992
RefSeq (protein) NP_005041 NP_033018
Location (UCSC) Chr 14:
74.75 – 74.77 Mb
Chr 12:
84.6 – 84.62 Mb
PubMed search [1] [2]

ATP-binding cassette sub-family D member 4 is a protein that in humans is encoded by the ABCD4 gene.[1][2][3]

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.[3]

See also[edit]

References[edit]

  1. ^ 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. 
  2. ^ 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. 
  3. ^ a b "Entrez Gene: ABCD4 ATP-binding cassette, sub-family D (ALD), member 4". 

Further reading[edit]

External links[edit]

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