| Function |
ATP-dependent transporter of the ATP-binding cassette (ABC) family involved in the transport of very long chain fatty acid (VLCFA)-CoA from the cytosol to the peroxisome lumen. Coupled to the ATP-dependent transporter activity has also a fatty acyl-CoA thioesterase activity (ACOT) and hydrolyzes VLCFA-CoA into VLCFA prior their ATP-dependent transport into peroxisomes, the ACOT activity is essential during this transport process. Thus, plays a role in regulation of VLCFAs and energy metabolism namely, in the degradation and biosynthesis of fatty acids by beta-oxidation, mitochondrial function and microsomal fatty acid elongation. Involved in several processes; namely, controls the active myelination phase by negatively regulating the microsomal fatty acid elongation activity and may also play a role in axon and myelin maintenance. Controls also the cellular response to oxidative stress by regulating mitochondrial functions such as mitochondrial oxidative phosphorylation and depolarization. And finally controls the inflammatory response by positively regulating peroxisomal beta-oxidation of VLCFAs.
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| Gene References into Functions |
- a novel heterozygous mutation IVS4+2T>A (c.1393+2T>A) of the ABCD1 gene are associated with different clinical phenotypes in a family with adrenoleukodystrophy. PMID:
28601575
- Expression of human ABCD1 in oligodendrocytes rescued apoptosis in the abcd1 mutant. PMID:
28911205
- In X-linked adrenoleukodystrophy, lack of ABCD1 function causes increased capillary flow heterogeneity in asymptomatic hemizygotes predominantly in the white matter regions and developmental stages with the highest probability for conversion to cerebral disease. PMID:
29136088
- To assist in the evaluation process, the New York Newborn Screening Program also routinely performs Sanger sequencing to determine if there are mutations in the ABCD1 gene. PMID:
27337030
- ABCD1 and ABCD2 are involved in the transport of long and very long chain fatty acids (VLCFA) or their CoA-derivatives into peroxisomes with different substrate specificities, while ABCD3 is involved in the transport of branched chain acyl-CoA into peroxisomes.ABCD4 is deduced to take part in the transport of vitamin B12 from lysosomes into the cytosol. PMID:
27766264
- This study showed that the mutations of were detected in SPG11, ATL1, NIPA1, and ABCD1 in patient with hereditary spastic paraplegia. PMID:
27084228
- Phenotypic variability in a Tunisian family with X-linked adrenoleukodystrophy caused by the p.Gln316Pro novel mutation PMID:
26686776
- CCALD is the most common phenotype (64%) in our Chinese patients with X-ALD. Eight novel mutations in the ABCD1 gene identified are disease-causing mutations. PMID:
26454440
- The current study demonstrates that a single splicing mutation affects the ABCD1 transcripts and the ALDP protein function. PMID:
25835712
- both BCAP31 and ABCD1 were associated with hepatic cholestasis and death before 1 year. Remarkably, a patient with an isolated deletion at the 3'-end of SLC6A8 had a similar severe phenotype as seen in BCAP31 deficiency PMID:
24597975
- Exome sequencing in two brothers with distinct phenotype including congenital language disorder, growth retardation, intellectual disability and urinary and fecal incontinence, identifies missense mutations in ABCD1 and DACH2. PMID:
25234129
- As a result of loss of ABCD1, there is pathogenic accumulation of very long chain fatty acids which leads to mitochondrial dysfunction. PMID:
25393703
- In the titel. PMID:
25044748
- We detected the same mutation of the ABCD1 gene in two unrelated patients with X-linked adrenoleukodystrophy. PMID:
25275259
- We describe four unrelated women with a late-onset progressive spastic paraparesis and heterozygous mutations in the ABCD1 gene PMID:
24154795
- X-inactivation pattern of the ABCD1 gene is associated with symptomatic status in female X-linked adrenoleukodystrophy carriers. PMID:
24480483
- This study unveil unequivocally that cryptic splicing-induced aberrant messenger-RNA carrying an internal frameshift deletion results from an intronic mutation in the ABCD1 gene. PMID:
23835273
- Array comparative genomic hybridization analysis suggested that the deletion was a genomic rearrangement in the 90-kb span starting in exon 4 and included ABCD1 PMID:
22994209
- Identified 8 mutationsof ABCD1 , including one novel deletion (c.1477_1488+11del23) and 7 known mutations. PMID:
23566833
- in contrast to yeast cells, very long-chain acyl-CoA esters are transported into peroxisomes by ABCD1 independently of additional synthetase activity PMID:
23671276
- Adrenoleukodystrophy and skewed x chromosome inactivation in favor of the mutatnt ABCD1 allele is associated with symptoms manifestation in heterozygotes from a Chinese pedigree. PMID:
23469258
- Identification of novel mutations in ABCD1 in unrelated Argentinean X-linked adrenoleukodystrophy patients PMID:
23300730
- Very long chain fatty acid (VLCFA) is beta-oxidized in ABCD1-dependent pathway, but the ABCD1-independent peroxisomal and mitochondrial beta-oxidation pathways significantly contribute to VLCFA beta-oxidation in astrocytes PMID:
23123468
- These results indicate that preferential X chromosome inactivation leads to the favored expression of the mutant ABCD1 allele. PMID:
22280810
- Single germ line mutation was identified in each index case in ABCD1 gene. Results detected 4 novel mutations (2 missense and 2 deletion/insertion) and 3 novel SNPS. Data observed a variable protein expression in different patients. PMID:
21966424
- standardized conformation sensitive gel electrophoresis (CSGE) method to detect mutations in ABCD1 gene in twenty Indian patients with X-ALD. The results were confirmed by sequencing. Genotype-phenotype correlation was also attempted PMID:
21889498
- Amongst 489 X-linked adrenoleukodystrophy families, 20 cases in which the ABCD1 mutation was de novo in the index case, indicating that the mutation arose in the maternal germ line. PMID:
21700483
- Novel mutation in ATP-binding domain of ABCD1 gene in adrenoleukodystrophy is reported. PMID:
21273699
- HsABCD1 and HsABCD2 have distinct substrate specificities PMID:
21145416
- Three female patients heterozygous for ABCD1 gene mutation were first reported in China, and a novel mutation, p.H283R, was identified in this X-linked adrenoleukodystrophy family. PMID:
20376793
- A family harbors a novel deletion of 1 base pair in exon 8 at nucleotide position 2245 (2245delA) in the ABCD1 gene. PMID:
20042197
- ABCD1 downregulation may be involved in human renal tumorigenesis. PMID:
19787628
- Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. PMID:
11992258
- Eight novel mutations are described. PMID:
12175782
- ALDP facilitates the interaction between peroxisomes and mitochondria, resulting, when ALDP is deficient in X-ALD, in increased VLCFA accumulation PMID:
12509471
- Mutations are heterogeneously distributed over functional domains of ALDP and alter peroxisomal transport function. PMID:
12530690
- The splice mutation in 5' end of intron 5 leading to abnormal splice in exon 5 and exon 6 appears to be one of the causes of X-linked recessive adrenoleukodystrophy. PMID:
12579499
- Six different missense mutations in ALD were identified in seven Japanese families. PMID:
12624723
- For the first time, mutations in ABCD1 are identified in Chinese adrenoleukodystrophy patients in the mainland of China. PMID:
14556192
- There were no hot spot mutations in ABCD1 gene in China, mutations in gene were found over 70% of patients with ALD and the ABCD1 gene mutations identified revealed no obvious correlation between the type of mutation and phenotype. PMID:
14767898
- ABCA1-independent but cytoskeleton-dependent cholesterol removal pathway may help to prevent early atherosclerosis in Tangier disease. PMID:
15001567
- Accumulation of very long-chain fatty acids does not affect mitochondrial function in ABCD1 protein deficiency. PMID:
15772093
- analysis of the PEX19-binding site of human adrenoleukodystrophy protein PMID:
15781447
- Adrenomyeloneuropathy must be considered in the differential diagnosis of spastic paraparesis in men or women. We report an ABCD1 gene mutation in the French-Canadian population, which should lead to the recognition of other cases in the future. PMID:
16018167
- over half of the mutations (19/34) were located in exon 1 and exon 6, suggesting possible hot exons PMID:
16087056
- Data show that fetus 1 had R617G mutation on his ABCD1 gene and he was an adrenoleukodystrophy hemizygote. Fetus 2 had no P534R mutation on his ABCD1 gene and he was a normal hemizygote. PMID:
16331554
- ABCD1 gene mutations were found in 4 cases of X-linked adrenoleukodystrophy with high VLCFAs levels of amniocytes, no mutation was found in other 4 cases with normal VLCFAs levels of amniocytes. PMID:
17285533
- mutant ALDPs, which have a mutation in COOH-terminal half of ALDP, including S606L, R617H, & H667D, were degraded by proteasomes after dimerization. region between transmembrane domain 2 and 3 is important for the targeting of ALDP to the peroxisome. PMID:
17542813
- This study examined a patient with Adult onset cerebral form of X-linked adrenoleukodystrophy with dementia of frontal lobe type with new L160P mutation in ABCD1 gene. PMID:
17662307
- ALDP-encoding mRNA is most abundant in tissues with high energy requirements such as heart, muscle, liver, and the renal and endocrine systems. ALDP selectively occurs in specific cell types of the brain. PMID:
17761426
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