Title : S149R, a novel mutation in the ABCD1 gene causing X-linked adrenoleukodystrophy.

Pub. Date : 2017 Oct 20

PMID : 29152099






2 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 It is a heterogeneous disorder caused by mutations in the ATP-binding cassette protein subfamily D1 (ABCD1) gene, encoding the peroxisomal membrane protein ALDP, which is involved in the transmembrane transport of very long-chain fatty acids. long-chain fatty acids ATP binding cassette subfamily D member 1 Homo sapiens
2 It is a heterogeneous disorder caused by mutations in the ATP-binding cassette protein subfamily D1 (ABCD1) gene, encoding the peroxisomal membrane protein ALDP, which is involved in the transmembrane transport of very long-chain fatty acids. long-chain fatty acids ATP binding cassette subfamily D member 1 Homo sapiens