Xcode Life

Gene: ABCD1

Alternate names for this Gene: ABC42|ALD|ALDP|AMN

Gene Summary: 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 is likely involved in the peroxisomal transport or catabolism of very long chain fatty acids. Defects in this gene have been identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited demyelinating disorder of the nervous system.

Gene is located in Chromosome: X

Location in Chromosome : Xq28

Description of this Gene: ATP binding cassette subfamily D member 1

Type of Gene: protein-coding

Gene: BCAP31

Alternate names for this Gene: 6C6-AG|BAP31|CDM|DDCH|DXS1357E

Gene Summary: This gene encodes a member of the B-cell receptor associated protein 31 superfamily. The encoded protein is a multi-pass transmembrane protein of the endoplasmic reticulum that is involved in the anterograde transport of membrane proteins from the endoplasmic reticulum to the Golgi and in caspase 8-mediated apoptosis. Microdeletions in this gene are associated with contiguous ABCD1/DXS1375E deletion syndrome (CADDS), a neonatal disorder. Alternative splicing of this gene results in multiple transcript variants. Two related pseudogenes have been identified on chromosome 16.

Gene is located in Chromosome: X

Location in Chromosome : Xq28

Description of this Gene: B cell receptor associated protein 31

Type of Gene: protein-coding

rs1057517954 in ABCD1;BCAP31 gene and Adrenoleukodystrophy

PMID 10980309 2000 Two novel mutations in the adrenoleukodystrophy gene in two unrelated Japanese families and the long-term effect of bone marrow transplantation.

PMID 25324868 2014 A Korean boy with atypical X-linked adrenoleukodystrophy confirmed by an unpublished mutation of ABCD1.

PMID 26227820 2016 Adult-onset cerebello-brainstem dominant form of X-linked adrenoleukodystrophy presenting as multiple system atrophy: case report and literature review.

PMID 22071894 2012 Clinical utility gene card for: adrenoleukodystrophy.

PMID 7825602 1995 Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein.

PMID 23419472 2013 Adrenoleukodystrophy in Norway: high rate of de novo mutations and age-dependent penetrance.

PMID 8566952 1996 Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy.

PMID 15811009 2005 X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females.

PMID 10737980 2000 Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described.

PMID 7904210 1993 Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy.

PMID 21889498 2011 Molecular analysis of ABCD1 gene in Indian patients with X-linked adrenoleukodystrophy.

PMID 7717396 1995 Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes.

PMID 23651979 2013 Molecular characterization of X-linked adrenoleukodystrophy in a Tunisian family: identification of a novel missense mutation in the ABCD1 gene.

PMID 21700483 2012 X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.

PMID 11248239 2001 Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters.

PMID 10551832 1999 Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters.

PMID 15643618 2005 Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy.

PMID 11438993 2001 Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange.

PMID 11810273 2001 Characterisation of two mutations in the ABCD1 gene leading to low levels of normal ALDP.

PMID 26686776 2016 Phenotypic variability in a Tunisian family with X-linked adrenoleukodystrophy caused by the p.Gln316Pro novel mutation.

PMID 10480364 1999 X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene mutations: no correlation between type of mutation and age of onset.

PMID 10369742 1999 Two novel missense mutations causing adrenoleukodystrophy in Italian patients.

PMID 7581394 1995 Mutational analysis of patients with X-linked adrenoleukodystrophy.

PMID 8040304 1994 Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene.

PMID 7849723 1994 Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD).

PMID 9452087 1998 First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.

PMID 15192815 2004 Three ABCD1 gene missense mutations were detected in three unrelated Chinese families with X-linked adrenoleukodystrophy, one of which, the mutation (P534R), is novel in Chinese with ALD, and the other two G266R and R617G mutations, have been reported outside China.

PMID 21068741 2011 X-linked adrenoleukodystrophy: diagnostic and follow-up system in Japan.

PMID 17285533 2007 [Prenatal diagnosis of X-linked adrenoleukodystrophy].

PMID 21966424 2011 Genomic profiling identifies novel mutations and SNPs in ABCD1 gene: a molecular, biochemical and clinical analysis of X-ALD cases in India.

PMID 14767898 2004 [X-linked adrenoleukodystrophy ABCD1 gene mutation analysis in China].

PMID 12175782 2002 Molecular characterization of 21 X-ALD Portuguese families: identification of eight novel mutations in the ABCD1 gene.

PMID 15800013 2005 Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy.

PMID 9195223 1997 Mutations in the adrenoleukodystrophy gene.

PMID 9088111 1996 Novel missense and frameshift mutations in the adrenoleukodystrophy gene.

PMID 9553942 1998 Clinical and genetic aspects of X-linked adrenoleukodystrophy.

PMID 10190819 1999 Mutational analysis and genotype-phenotype correlation of 29 unrelated Japanese patients with X-linked adrenoleukodystrophy.

PMID 23926373 2010 Recurrent Anion Gap Acidosis: An Unusual Presentation of X-Linked Adrenoleukodystrophy in a Five-year-old Male.

PMID 8651290 1996 Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy.

PMID 11336405 2001 Identification of new mutations in Israeli patients with X-linked adrenoleukodystrophy.

PMID 7860075 1995 De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) gene.

PMID 17542813 2007 Adrenoleukodystrophy: subcellular localization and degradation of adrenoleukodystrophy protein (ALDP/ABCD1) with naturally occurring missense mutations.

PMID 24722136 2014 X-linked adrenoleukodystrophy: are signs of hypogonadism always due to testicular failure?

PMID 20661612 2011 Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes.

PMID 11748843 2001 ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.

PMID 15284851 2004 Nonsense-mediated decay approaches the clinic.

PMID 9556301 1998 Incidence of X-linked adrenoleukodystrophy and the relative frequency of its phenotypes.

PMID 8773611 1996 Cerebral adrenoleukodystrophy (ALD) in only one of monozygotic twins with an identical ALD genotype.

PMID 11310629 2001 Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening.

PMID 15564782 2005 Novel insertion 496_497insG creating a stop codon D194X in a Chinese family with X-Linked adrenoleukodystrophy.

PMID 6795626 1981 Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells.

PMID 11220738 2001 Evolution of phenotypes in adult male patients with X-linked adrenoleukodystrophy.

PMID 1481812 1992 Predictions of a 2-locus model for disease heterogeneity: application to adrenoleukodystrophy.

PMID 9894883 1999 Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls.

PMID 12913200 2003 Analysis of MRI patterns aids prediction of progression in X-linked adrenoleukodystrophy.

PMID 10815658 2000 X-linked adrenoleukodystrophy: the role of contrast-enhanced MR imaging in predicting disease progression.

PMID 8353949 1993 Profiles of very-long-chain fatty acids in plasma, fibroblasts, and blood cells in Zellweger syndrome, X-linked adrenoleukodystrophy, and rhizomelic chondrodysplasia punctata.

PMID 14713218 2003 Mouse models and genetic modifiers in X-linked adrenoleukodystrophy.

PMID 23300730 2012 X-linked adrenoleukodystrophy: molecular and functional analysis of the ABCD1 gene in Argentinean patients.

PMID 7202134 1981 Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids.

PMID 22198747 2011 Stem cell gene therapy: the risks of insertional mutagenesis and approaches to minimize genotoxicity.

PMID 24719134 2014 Clinical and genetic aspects in twelve Korean patients with adrenomyeloneuropathy.

PMID 7998779 1994 Phenotypic heterogeneity of an adult form of adrenoleukodystrophy in monozygotic twins.

PMID 15812458 2005 Adrenal insufficiency in asymptomatic adrenoleukodystrophy patients identified by very long-chain fatty acid screening.

PMID 16415970 2006 The genotype and phenotype studies of 40 Chinese patients with X-linked adrenoleukodystrophy (X-ALD).

PMID 6728562 1984 Adrenoleukodystrophy: impaired oxidation of very long chain fatty acids in white blood cells, cultured skin fibroblasts, and amniocytes.

PMID 7894167 1994 cDNA sequence of Aldgh, the mouse homolog of the X-linked adrenoleukodystrophy gene.

PMID 15388659 2004 Method for measurement of peroxisomal very-long-chain fatty acid beta-oxidation in human skin fibroblasts using stable-isotope-labeled tetracosanoic acid.

PMID 22366764 2012 Peroxisomal ABC transporters: structure, function and role in disease.

PMID 7811247 1994 X-linked adrenoleukodystrophy (ALD): a novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes.

PMID 24685009 2014 Multiple endocrine disorders associated with adrenomyeloneuropathy and a novel mutation of the ABCD1 gene.

PMID 21586746 2011 Outcomes after allogeneic hematopoietic cell transplantation for childhood cerebral adrenoleukodystrophy: the largest single-institution cohort report.

PMID 16949688 2006 X-linked adrenoleukodystrophy: clinical, biochemical and pathogenetic aspects.

PMID 16023551 2005 Natural history of X-linked adrenoleukodystrophy in Japan.

PMID 7677014 1995 MR findings in adult-onset adrenoleukodystrophy.

PMID 20626745 2010 Pathomechanisms underlying X-adrenoleukodystrophy: a three-hit hypothesis.

PMID 21488864 2011 Mammalian peroxisomal ABC transporters: from endogenous substrates to pathology and clinical significance.

PMID 21478203 2011 Latitude is significantly associated with the prevalence of multiple sclerosis: a meta-analysis.

PMID 23712774 2013 Parallel assessment of globin lentiviral transfer in induced pluripotent stem cells and adult hematopoietic stem cells derived from the same transplanted β-thalassemia patient.

PMID 20008255 2009 Hematopoietic stem cell gene transfer for the treatment of hemoglobin disorders.

PMID 20455653 2010 Stem cells in genetic myelin disorders.

PMID 8441467 1993 Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters.

PMID 23671276 2013 Impaired very long-chain acyl-CoA β-oxidation in human X-linked adrenoleukodystrophy fibroblasts is a direct consequence of ABCD1 transporter dysfunction.

PMID 23430809 2013 A Novel Double Mutation in the ABCD1 Gene in a Patient with X-linked Adrenoleukodystrophy: Analysis of the Stability and Function of the Mutant ABCD1 Protein.

PMID 23566848 2013 Gene therapy on demand: site specific regulation of gene therapy.