Ontology highlight
ABSTRACT:
SUBMITTER: Yan F
PROVIDER: S-EPMC5675651 | biostudies-literature | 2017 Oct
REPOSITORIES: biostudies-literature
Yan Fang F Wang Wenbo W Ying Hui H Li Hongyu H Chen Jing J Xu Chao C
Oncotarget 20170918 50
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. It is a heterogeneous disorder caused by mutations in the <i>ATP-binding cassette protein subfamily D1</i> (<i>ABCD1</i>) gene, encoding the peroxisomal membrane protein ALDP, which is involved in the transmembrane transport of very long-chain fatty acids. For the first time, we report a case of olivopontocerebellar X-ALD on the Chinese mainland. In this study, a novel mutation (c.447T>A; p.S149R) in <i>ABCD1</i> was ...[more]