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

rs1064793877 in ABCD1 gene and Adrenoleukodystrophy PMID 22071894 2012 Clinical utility gene card for: adrenoleukodystrophy.

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

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

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

PMID 26454440 2015 Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophy.

PMID 17542813 2007 In the case of X-ALD fibroblasts from an ALD patient (R617H), the mutant ALDP was not detected in the cells, but appeared upon incubation with a proteasome inhibitor.

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

PMID 9425230 1998 Suppression of peroxisomal membrane protein defects by peroxisomal ATP binding cassette (ABC) proteins.

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

PMID 7668254 1995 Altered expression of ALDP in X-linked adrenoleukodystrophy.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

PMID 22479560 2012 Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy.

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 22280810 2012 Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms.

PMID 26388597 2016 X-linked adrenoleukodystrophy in a 6-year-old boy initially presenting with psychiatric symptoms.

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

PMID 10190819 1999 Mutational analysis and genotype-phenotype correlation of 29 unrelated Japanese patients with 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 12175782 2002 Molecular characterization of 21 X-ALD Portuguese families: identification of eight novel mutations in the ABCD1 gene.

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

PMID 27084228 2016 Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands.

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

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

PMID 20195870 2010 Female carriers of X-chromosomal adrenoleukodystrophy: a major differential diagnosis in progressive myelopathy.

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 21476988 2011 Conservation of targeting but divergence in function and quality control of peroxisomal ABC transporters: an analysis using cross-kingdom expression.

PMID 24788897 2014 Molecular analysis in X-linked adrenoleukodystrophy patients: identification of a novel mutation.

PMID 9242200 1997 Variability of endocrinological dysfunction in 55 patients with X-linked adrenoleucodystrophy: clinical, laboratory and genetic findings.

PMID 24480483 2014 X-linked adrenoleukodystrophy in women: a cross-sectional cohort study.

PMID 10980539 2000 Detection of mutations in the ALD gene (ABCD1) in seven Italian families: description of four novel mutations.

PMID 27067449 2016 Pathogenicity of novel ABCD1 variants: The need for biochemical testing in the era of advanced genetics.

PMID 23566833 2013 ABCD1 mutations and phenotype distribution in Chinese patients with X-linked adrenoleukodystrophy.

PMID 19129531 2009 Case records of the Massachusetts General Hospital. Case 1-2009. A 57-year-old man with progressive cognitive decline.

PMID 18973459 2008 Identification of two de novo mutations in Chinese patients with X-linked adrenoleukodystrophy.

PMID 21300044 2011 Molecular diagnosis of X-linked adrenoleukodystrophy: experience from a clinical genetic laboratory in mainland China with report of 13 novel mutations.

PMID 9051655 1997 Protease inhibitors suppress the degradation of mutant adrenoleukodystrophy proteins but do not correct impairment of very long chain fatty acid metabolism in adrenoleukodystrophy fibroblasts.

PMID 8892025 1996 ALDP expression in fibroblasts of patients with X-linked adrenoleukodystrophy.

PMID 23835273 2013 Mutational analyses on X-linked adrenoleukodystrophy reveal a novel cryptic splicing and three missense mutations in the ABCD1 gene.

PMID 10227685 1999 X-linked adrenoleukodystrophy: genes, mutations, and phenotypes.

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

PMID 23154058 2013 Epilepsy in adult X-linked adrenoleucodystrophy due to the deletion c.1415-1416delAG in exon 5 of the ABCD1-gene.

PMID 8048932 1994 Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: a possible hot spot for mutations.

PMID 23768953 2013 Glutathione imbalance in patients with X-linked adrenoleukodystrophy.

PMID 8651290 1996 Except for two mutations (delAG1801 and P560L) observed four times each, nearly every ALD family has a different mutation.

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

PMID 28503596 2019 Guillain Barré Syndrome in a Child With X-Linked Adrenoleukodystrophy.

PMID 24154795 2014 An under-recognised cause of spastic paraparesis in middle-aged women.

PMID 16087056 2005 ABCD1 gene mutations in Chinese patients with X-linked adrenoleukodystrophy.

PMID 17029209 2006 [Avoiding the interference of ABCD1 pseudogenes in the molecular diagnosis of X-linked adrenoleukodystrophy by double amplification refractory mutation system].

PMID 22483867 2012 X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects.

PMID 16401743 2006 Double trouble in hereditary neuropathy: concomitant mutations in the PMP-22 gene and another gene produce novel phenotypes.

rs1557055405 in ABCD1 gene and Ankle clonus PMID 9452087 1998 First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.

rs1557055405 in ABCD1 gene and Asthma PMID 9452087 1998 First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.

rs1557055405 in ABCD1 gene and Babinski Reflex PMID 9452087 1998 First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.

rs1557055405 in ABCD1 gene and Brisk reflexes PMID 9452087 1998 First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.

rs1557055405 in ABCD1 gene and Gait abnormality PMID 9452087 1998 First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.

rs1557055405 in ABCD1 gene and High, narrow palate PMID 9452087 1998 First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.

rs1557055405 in ABCD1 gene and Impaired distal proprioception PMID 9452087 1998 First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.

rs1557055405 in ABCD1 gene and Impaired pain sensation PMID 9452087 1998 First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.

rs1557055405 in ABCD1 gene and Impaired vibration sensation in the lower limbs PMID 9452087 1998 First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.

rs1557055405 in ABCD1 gene and Low Back Pain PMID 9452087 1998 First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.

rs1557055405 in ABCD1 gene and Lower limb hyperreflexia PMID 9452087 1998 First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.

rs1557055405 in ABCD1 gene and Progressive spastic paraplegia PMID 9452087 1998 First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.

rs1557055405 in ABCD1 gene and Progressive spasticity PMID 9452087 1998 First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.

rs1557055405 in ABCD1 gene and Romberg's sign positive PMID 9452087 1998 First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.

rs1557055405 in ABCD1 gene and Scoliosis, unspecified PMID 9452087 1998 First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.

rs1557055405 in ABCD1 gene and Serum lipids high (finding) PMID 9452087 1998 First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.

rs1557055405 in ABCD1 gene and Thoracolumbar scoliosis PMID 9452087 1998 First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.

rs1557055405 in ABCD1 gene and Urgency of micturition PMID 9452087 1998 First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.

rs1557055405 in ABCD1 gene and Urinary Stress Incontinence PMID 9452087 1998 First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.

rs1557055405 in ABCD1 gene and Very long chain fatty acid accumulation PMID 9452087 1998 First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.