Ontology highlight
ABSTRACT:
SUBMITTER: Jia Y
PROVIDER: S-EPMC9683791 | biostudies-literature | 2022 Nov
REPOSITORIES: biostudies-literature
Jia Yutian Y Zhang Yanming Y Wang Wenhao W Lei Jianlin J Ying Zhengxin Z Yang Guanghui G
eLife 20221114
Adrenoleukodystrophy protein (ALDP) is responsible for the transport of very-long-chain fatty acids (VLCFAs) and corresponding CoA-esters across the peroxisomal membrane. Dysfunction of ALDP leads to peroxisomal metabolic disorder exemplified by X-linked adrenoleukodystrophy (ALD). Hundreds of ALD-causing mutations have been identified on ALDP. However, the pathogenic mechanisms of these mutations are restricted to clinical description due to limited structural and biochemical characterization. ...[more]