ABCD1 Gene | ScienceGate

Abstract Background X-linked adrenoleukodystrophy (X-ALD), the most common peroxisomal disorder, is caused by mutations in the ABCD1 gene located on Xq28. X-ALD is characterized by a spectrum of different manifestations varying in patients and families. Methods Four pedigrees with X-ALD consisting of patients and healthy members were selected for investigation of ABCD1 gene mutations. The mutation analysis was performed by polymerase chain reaction (PCR) followed by direct sequencing of all exons. The identified mutations were investigated using bioinformatics tools to predict their effects on the protein product and also to compare the mutated sequence with close species. Results One previously known missense mutation (c.1978 C > T) and three novel mutations (c.1797dupT, c.879delC, c.1218 C > G) were identified in the ABCD1 gene, each in one family. Predicting the effects of the mutations on protein structure and function indicated the probable damaging effect for them with significant alterations in the protein structure. We found three novel mutations in the ABCD1 gene with damaging effects on its protein product and responsible for X-ALD.

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Novel ABCD1 Gene Mutation in a Korean Patient with X-Linked Adrenoleukodystrophy Presenting with Addison's Disease

Endocrinology and Metabolism ◽

10.3803/enm.2020.35.1.188 ◽

2020 ◽

Vol 35 (1) ◽

pp. 188

Author(s):

Yun Kyung Cho ◽

Seo-Young Lee ◽

Sang-Wook Kim

Keyword(s):

Gene Mutation ◽

Addison’S Disease ◽

Addison's Disease ◽

Korean Patient ◽

Abcd1 Gene

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Characterisation of two mutations in the ABCD1 gene leading to low levels of normal ALDP

Human Genetics ◽

10.1007/s00439-001-0632-z ◽

2001 ◽

Vol 109 (6) ◽

pp. 616-622 ◽

Cited By ~ 10

Author(s):

Carla P. Guimarães ◽

Manuela Lemos ◽

Isabel Menezes ◽

Teresa Coelho ◽

Clara Sá-Miranda ◽

...

Keyword(s):

Abcd1 Gene ◽

Low Levels

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

World Journal of Pediatrics ◽

10.1007/s12519-015-0044-0 ◽

2015 ◽

Vol 11 (4) ◽

pp. 366-373 ◽

Cited By ~ 3

Author(s):

Shan-Shan Chu ◽

Jun Ye ◽

Hui-Wen Zhang ◽

Lian-Shu Han ◽

Wen-Juan Qiu ◽

...

Keyword(s):

Clinical Characteristics ◽

Chinese Patients ◽

Novel Mutations ◽

Abcd1 Gene

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Role of family D ATP-binding cassette transporters (ABCD) in cancer

Biochemical Society Transactions ◽

10.1042/bst20150114 ◽

2015 ◽

Vol 43 (5) ◽

pp. 937-942 ◽

Cited By ~ 10

Author(s):

Viktor Hlaváč ◽

Pavel Souček

Keyword(s):

Atp Binding ◽

Long Chain Fatty Acids ◽

Peroxisomal Disorders ◽

Differentiated Cells ◽

The Family ◽

Abcd1 Gene ◽

Available Information ◽

Coenzyme A Esters ◽

Atp Binding Cassette

ATP-binding cassette (ABC) transporters, belonging to the family D, are expressed in peroxisomes, endoplasmic reticulum or lysosomes. ABCD transporters play a role in transport of lipids, bile acids and vitamin B12 and associate with peroxisomal disorders. ABCD1 performs transport of coenzyme A esters of very-long-chain fatty acids (VLCFA) in peroxisomes and a number of mutations in ABCD1 gene were linked to an X-linked adrenoleucodystrophy (X-ALD). The role of ABCD transporters in tumour growth has not been studied in detail, but there is some evidence that ABCDs levels differ between undifferentiated stem or tumour cells and differentiated cells suggesting a possible link to tumorigenesis. In this mini-review, we discuss the available information about the role of ABCD transporters in cancer.

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