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FB2026_01
,
released March 12, 2026
Adrenoleukodystrophy (MIM:300100) is characterized by the accumulation of saturated very long chain fatty acids (VLCFA) in all tissues of the body. The X-linked gene ABCD1, which encodes a ATP-binding cassette (ABC) transporter that is located in the peroxisome, has been implicated in this disease. Whether dysfunction of other genes that impact the metabolism of very long chain fatty acids can result in adrenoleukodystrophy is not known.
In human, there are over two dozen genes in the Acyl-CoA synthetase family (ACS) (https://www.genenames.org/cgi-bin/genefamilies/set/40). There are two genes in the ACS bubblegum family, ACSBG2 and ACSBG1.
In Drosophila, there are also two genes in the ACS bubblegum family, the eponymous bubblegum, bgm, and heimdall, hll. Animals homozygous for loss-of-function mutations in either gene exhibit optic lobe and retinal degeneration; similar, but more extreme, phenotypes are observed for the double mutant. Elevation of VLCFAs is observed in the double-mutant flies, but not in the single mutant animals. Phenotypes of double mutant animals suggest that both neurons and their supporting cells are affected; excess fatty acid accumulation is associated with neuronal loss via lytic cell death, including widespread cell losses in the fly brain.
For fly transgenic constructs and classical alleles, detailed phenotypic descriptions can be found in the allele reports; allele reports can be accessed from the gene report or by clicking on the allele symbols in the Disease Ontology and Reagent tables below.
[updated Mar. 2018 by FlyBase; FBrf0222196]
Adrenoleukodystrophy (ALD) is a rare and oftentimes fatal progressive neurodegenerative disease (FBrf0231861 and references cited therein).
The manifestations of adrenoleukodystrophy occur primarily in the adrenal cortex, the myelin of the central nervous system, and the Leydig cells of the testes. [from MIM:300100; 2018.03.09]
The most common form of the disease, X-linked ALD, is a clinically heterogeneous disorder, exhibiting incomplete penetrance and variable expressivity, including variable age of onset (Moser et al., 2005; pubmed:16380594).
Adrenoleukodystrophy (MIM:300100) is characterized by the accumulation of saturated very long chain fatty acids (VLCFA) in all tissues of the body. The X-linked gene ABCD1, which encodes a ATP-binding cassette (ABC) transporter that is located in the peroxisome, has been implicated in this disease. [from MIM:300371; 2018.03.09]
Fatty acids are incorporated into membranes and signaling molecules and have roles in energy storage and metabolism. These essential functions require activation of the fatty acid by acyl-coenzyme A (CoA) synthetases, such as ACSBG1 and ACSBG2, which form an activating thioester linkage between the fatty acid and CoA (Watkins et al., 2007; pubmed:17762044). [from MIM:614362, MIM:614363; 2018.03.09]
Many to many: 2 human to 2 Drosophila; the other human gene is ACSBG2.
Many to many: 2 human to 2 Drosophila; the other human gene is ACSBG1.
High-scoring ortholog of human ACSBG2 and ACSBG1 (2 Drosophila to 2 human). Dmel\bgm shares 41-43% identity and 61-66% similarity with the human genes.
High-scoring ortholog of human ACSBG2 and ACSBG1 (2 Drosophila to 2 human). Dmel\hll shares 37-38% identity and 56-57% similarity with the human genes.