Recombinant Human ATP-binding cassette sub-family D member 1 (ABCD1) (Active)

1. 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
2. Expression of human ABCD1 in oligodendrocytes rescued apoptosis in the abcd1 mutant. PMID: 28911205
3. 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
4. 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
5. 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
6. This study showed that the mutations of were detected in SPG11, ATL1, NIPA1, and ABCD1 in patient with hereditary spastic paraplegia. PMID: 27084228
7. Phenotypic variability in a Tunisian family with X-linked adrenoleukodystrophy caused by the p.Gln316Pro novel mutation PMID: 26686776
8. 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
9. The current study demonstrates that a single splicing mutation affects the ABCD1 transcripts and the ALDP protein function. PMID: 25835712
10. 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
11. 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
12. As a result of loss of ABCD1, there is pathogenic accumulation of very long chain fatty acids which leads to mitochondrial dysfunction. PMID: 25393703
13. In the titel. PMID: 25044748
14. We detected the same mutation of the ABCD1 gene in two unrelated patients with X-linked adrenoleukodystrophy. PMID: 25275259
15. We describe four unrelated women with a late-onset progressive spastic paraparesis and heterozygous mutations in the ABCD1 gene PMID: 24154795
16. X-inactivation pattern of the ABCD1 gene is associated with symptomatic status in female X-linked adrenoleukodystrophy carriers. PMID: 24480483
17. 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
18. 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
19. Identified 8 mutationsof ABCD1 , including one novel deletion (c.1477_1488+11del23) and 7 known mutations. PMID: 23566833
20. in contrast to yeast cells, very long-chain acyl-CoA esters are transported into peroxisomes by ABCD1 independently of additional synthetase activity PMID: 23671276
21. 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
22. Identification of novel mutations in ABCD1 in unrelated Argentinean X-linked adrenoleukodystrophy patients PMID: 23300730
23. 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
24. These results indicate that preferential X chromosome inactivation leads to the favored expression of the mutant ABCD1 allele. PMID: 22280810
25. 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
26. 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
27. 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
28. Novel mutation in ATP-binding domain of ABCD1 gene in adrenoleukodystrophy is reported. PMID: 21273699
29. HsABCD1 and HsABCD2 have distinct substrate specificities PMID: 21145416
30. 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
31. A family harbors a novel deletion of 1 base pair in exon 8 at nucleotide position 2245 (2245delA) in the ABCD1 gene. PMID: 20042197
32. ABCD1 downregulation may be involved in human renal tumorigenesis. PMID: 19787628
33. Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. PMID: 11992258
34. Eight novel mutations are described. PMID: 12175782
35. ALDP facilitates the interaction between peroxisomes and mitochondria, resulting, when ALDP is deficient in X-ALD, in increased VLCFA accumulation PMID: 12509471
36. Mutations are heterogeneously distributed over functional domains of ALDP and alter peroxisomal transport function. PMID: 12530690
37. 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
38. Six different missense mutations in ALD were identified in seven Japanese families. PMID: 12624723
39. For the first time, mutations in ABCD1 are identified in Chinese adrenoleukodystrophy patients in the mainland of China. PMID: 14556192
40. 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
41. ABCA1-independent but cytoskeleton-dependent cholesterol removal pathway may help to prevent early atherosclerosis in Tangier disease. PMID: 15001567
42. Accumulation of very long-chain fatty acids does not affect mitochondrial function in ABCD1 protein deficiency. PMID: 15772093
43. analysis of the PEX19-binding site of human adrenoleukodystrophy protein PMID: 15781447
44. 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
45. over half of the mutations (19/34) were located in exon 1 and exon 6, suggesting possible hot exons PMID: 16087056
46. 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
47. 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
48. 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
49. 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
50. 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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HGNC: 61

OMIM: 300100

KEGG: hsa:215

STRING: 9606.ENSP00000218104

UniGene: Hs.159546