ABCD3

From Wikipedia, the free encyclopedia
Jump to: navigation, search
ATP-binding cassette, sub-family D (ALD), member 3
Identifiers
Symbols ABCD3 ; ABC43; PMP70; PXMP1; ZWS2
External IDs OMIM170995 MGI1349216 HomoloGene2140 GeneCards: ABCD3 Gene
RNA expression pattern
PBB GE ABCD3 202850 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 5825 19299
Ensembl ENSG00000117528 ENSMUSG00000028127
UniProt P28288 P55096
RefSeq (mRNA) NM_001122674 NM_008991
RefSeq (protein) NP_001116146 NP_033017
Location (UCSC) Chr 1:
94.88 – 94.98 Mb
Chr 3:
121.76 – 121.82 Mb
PubMed search [1] [2]

ATP-binding cassette sub-family D member 3 is a protein that in humans is encoded by the ABCD3 gene.[1][2][3]

Function[edit]

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. This peroxisomal membrane protein likely plays an important role in peroxisome biogenesis.[3]

Clinical significance[edit]

Mutations have been associated with some forms of Zellweger syndrome, a heterogeneous group of peroxisome assembly disorders.[3]

See also[edit]

Interactions[edit]

ABCD3 has been shown to interact with PEX19.[4][5][6][7]

References[edit]

  1. ^ Gartner J, Moser H, Valle D (June 1993). "Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome". Nat Genet 1 (1): 16–23. doi:10.1038/ng0492-16. PMID 1301993. 
  2. ^ Gartner J, Kearns W, Rosenberg C, Pearson P, Copeland NG, Gilbert DJ, Jenkins NA, Valle D (April 1993). "Localization of the 70-kDa peroxisomal membrane protein to human 1p21-p22 and mouse 3". Genomics 15 (2): 412–4. doi:10.1006/geno.1993.1076. PMID 8449508. 
  3. ^ a b c "Entrez Gene: ABCD3 ATP-binding cassette, sub-family D (ALD), member 3". 
  4. ^ 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. 
  5. ^ 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. 
  6. ^ Sacksteder KA, Jones JM, South ST, Li X, Liu Y, Gould SJ (March 2000). "PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis". J. Cell Biol. 148 (5): 931–44. doi:10.1083/jcb.148.5.931. PMC 2174547. PMID 10704444. 
  7. ^ Biermanns M, Gärtner J (July 2001). "Targeting elements in the amino-terminal part direct the human 70-kDa peroxisomal integral membrane protein (PMP70) to peroxisomes". Biochem. Biophys. Res. Commun. 285 (3): 649–55. doi:10.1006/bbrc.2001.5220. PMID 11453642. 

Further reading[edit]

External links[edit]

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