ABCD4

ATP-binding cassette, sub-family D (ALD), member 4
Identifiers
Symbols ABCD4; ABC41; EST352188; P70R; P79R; PMP69; PXMP1L
External IDs OMIM: 603214 MGI: 1349217 HomoloGene: 3703 GeneCards: ABCD4 Gene
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 5826 19300
Ensembl ENSG00000119688 ENSMUSG00000021240
UniProt O14678 Q80Y28
RefSeq (mRNA) NM_005050.3 NM_008992.2
RefSeq (protein) NP_064719 NP_033018.2
Location (UCSC) Chr 14:
74.75 – 74.77 Mb		 Chr 12:
85.94 – 85.96 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]

Contents

See also

References

  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". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5826. 

Further reading

External links

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

A
A1 · A2 · A3 · A4 · A7 · A8 · A12 · A13
B
B1 · B2-3 (B2, B3) · B4 · B5 · B6 · B7 · B9 · B11
C
C1 · C2 · C3 · C4 · C5 · C6 · C7 · C8-9 (C8, C9) · C10 · C11 · C13
D
D1 · D2 · D3 · D4
E
F
F1 · F2
G
G1 · G2 · G4 · Sterolin (G5, G8)
see also ABC transporter disorders
B memb: cead, trns (1A, 1C, 1F, 2A, 3A1, 3A2-3, 3D), othr