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ATP-binding cassette, sub-family D

ABCD4, P70R, PMP69
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. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: ACID, CAN, RLI, HAD, AGE
Papers on ABCD4
Gene expression profile of ABC transporters and cytotoxic effect of ibuprofen and acetaminophen in an epithelial ovarian cancer cell line in vitro.
New
da Silva Filho et al., Belo Horizonte, Brazil. In Rev Bras Ginecol Obstet, Jun 2015
TOV-21 G cells had a reduced expression of the genes ABCA1, ABCC3, ABCC4, ABCD3, ABCD4 and ABCE1 within the ABC transporter superfamily.
Progressive hyperpigmentation in a Taiwanese child due to an inborn error of vitamin B12 metabolism (cblJ).
New
McGrath et al., London, United Kingdom. In Br J Dermatol, Apr 2015
Using whole-exome sequencing we identified a homozygous mutation in ABCD4 (c.423C>G; p.Asn141Lys), which encodes an ATP-binding cassette transporter with a role in the intracellular processing of cobalamin.
Purification and interaction analyses of two human lysosomal vitamin B12 transporters: LMBD1 and ABCD4.
Coulton et al., Montréal, Canada. In Mol Membr Biol, 2014
Mutations in human LMBRD1 and ABCD4 prevent lysosomal export of vitamin B(12) to the cytoplasm, impairing the vitamin B(12)-dependent enzymes methionine synthase and methylmalonyl-CoA mutase.
Role of NH2-terminal hydrophobic motif in the subcellular localization of ATP-binding cassette protein subfamily D: common features in eukaryotic organisms.
Morita et al., Toyama, Japan. In Biochem Biophys Res Commun, 2014
ABCD1-3 possesses the NH2-terminal hydrophobic region and are targeted to peroxisomes, while ABCD4 lacking the region is targeted to the endoplasmic reticulum (ER).
Genetic architecture of vitamin B12 and folate levels uncovered applying deeply sequenced large datasets.
Pedersen et al., Copenhagen, Denmark. In Plos Genet, 2013
We found six novel loci associating with serum B(12) (CD320, TCN2, ABCD4, MMAA, MMACHC) or folate levels (FOLR3) and confirmed seven loci for these traits (TCN1, FUT6, FUT2, CUBN, CLYBL, MUT, MTHFR).
Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: diagnosis and novel mutation revealed by exome sequencing.
Rosenblatt et al., Montréal, Canada. In Mol Genet Metab, 2012
The new defect is caused by mutations in the ABCD4 gene, encoding an ABC transporter.
Defect of cobalamin intracellular metabolism presenting as diabetic ketoacidosis: a rare manifestation.
Attri et al., Chandīgarh, India. In Jimd Rep, 2012
This is probably the first case report of cobalamin intracellular metabolism defect (CblC/CblD/CblF/CblJ or ABCD4) presenting as diabetic ketoacidosis.
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.
Impact
Baumgartner et al., Zürich, Switzerland. In Nat Genet, 2012
Using microcell-mediated chromosome transfer and exome sequencing, we identified causal mutations in ABCD4, a gene that codes for an ABC transporter, which was previously thought to have peroxisomal localization and function.
The role of ABC transporters in progression and clinical outcome of colorectal cancer.
Soucek et al., Praha, Czech Republic. In Mutagenesis, 2012
The disease-free interval of patients treated by adjuvant chemotherapy was significantly shorter in patients with low transcript levels of ABCA7, ABCA13, ABCB4, ABCC11 and ABCD4.
Two novel mutations in African and Asian children with progressive familial intrahepatic cholestasis type 3.
GeneRIF
Francalanci et al., Roma, Italy. In Dig Liver Dis, 2011
Defects in ABCB4 have been found to cause progressive familial intrahepatic cholestasis type 3.
Conservation of targeting but divergence in function and quality control of peroxisomal ABC transporters: an analysis using cross-kingdom expression.
Theodoulou et al., Harpenden, United Kingdom. In Biochem J, 2011
When expressed in tobacco epidermal cells, the mammalian ABCD proteins ALDP (adrenoleukodystrophy protein), ALDR (adrenoleukodystrophy-related protein) and PMP70 (70 kDa peroxisomal membrane protein) targeted faithfully to peroxisomes and P70R (PMP70-related protein) targeted to the ER (endoplasmic reticulum), as in the native host.
Molecular investigation of pediatric portuguese patients with sensorineural hearing loss.
Vilarinho et al., Porto, Portugal. In Genet Res Int, 2010
We also identified mono- or biallelic GJB2 mutations in 20 of 53 non-syndromic cases and also detected two novel mutations (p.P70R and p.R127QfsX84).
Host response transcriptional profiling reveals extracellular components and ABC (ATP-binding cassette) transporters gene enrichment in typhoid fever-infected Nigerian children.
Obaro et al., East Lansing, United States. In Bmc Infect Dis, 2010
We found novel down-regulation of ABC (ATP-binding cassette) transporters genes such as ABCA7, ABCC5, and ABCD4 and ATPase activity as the highest enriched pathway.
70-kDa peroxisomal membrane protein related protein (P70R/ABCD4) localizes to endoplasmic reticulum not peroxisomes, and NH2-terminal hydrophobic property determines the subcellular localization of ABC subfamily D proteins.
GeneRIF
Imanaka et al., Toyama, Japan. In Exp Cell Res, 2009
P70R resides in the ER but not the peroxisomal membranes, and the hydrophobic property of NH(2)-terminal region determines the subcellular localization of ABC subfamily D proteins.
Disorders of Intracellular Cobalamin Metabolism
Review
Venditti et al., Seattle, United States. In Unknown Journal, 2008
Diagnosis is confirmed by identification of biallelic mutation in one of the following genes (associated complementation groups indicated in parentheses): MMACHC (cblC), MMADHC (cblD and cblD variant 1), MTRR (cblE), LMBRD1 (cblF), MTR (cblG), and ABCD4 (cblJ).
X-linked adrenoleukodystrophy: very long-chain fatty acid metabolism, ABC half-transporters and the complicated route to treatment.
Review
Wanders et al., Amsterdam, Netherlands. In Mol Genet Metab, 2007
The peroxisomal membrane harbors three additional closely related ABC half-transporters, ALDRP, PMP70 and PMP69 (PMP70R).
Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy.
GeneRIF
Aubourg et al., Paris, France. In Hum Mol Genet, 2005
expression tends to be correlated with the severity of X-linked adrenoleukodystrophy
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