The ABCD1 gene

Sequence and organization of the ABCD1 gene

Genetic linkage with glucose-6-phosphate dehydrogenase (G6PD) pointed the adrenoleukodystrophy locus to the end of the long arm of the X-chromosome, Xq28. In 1993, the ABCD1 gene was identified by the use of positional cloning strategies (Mosser et al., 1993). The gene covers 19.9 kb, is composed of 10 exons and it codes for a protein of 745 amino acids. The adrenoleukodystrophy protein (ALDP, or ABCD1) belongs to the human protein family of ATP-binding cassette (ABC) transporters. The adrenoleukodystrophy protein belongs to sub-family D, member 1 (ABCD1).

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Last modified | 2019-04-01