2024年12月24日 · ABCD1 (ATP Binding Cassette Subfamily D Member 1) is a Protein Coding gene. Diseases associated with ABCD1 include Adrenoleukodystrophy and …

ABCD1 is a protein that transfers fatty acids into peroxisomes. The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins …

人类ABCD1属于ABC转运蛋白超家族ABCD亚家族，定位于过氧化物酶体膜上，能够利用ATP水解产生的能量将超长链脂酰辅酶A (VLCFA-CoA)从细胞质转运到过氧化物酶体中进行β-氧化。 …

ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, …

2022年6月8日 · Here, we report three cryogenic electron microscopy structures of ABCD1: the apo-form, substrate- and ATP-bound forms. Distinct from what was seen in the previously …

2025年2月8日 · ABCD1 mutation in the ethiopathogenesis of X-linked adrenoleukodystrophy. Its defect causes accumulation of the very long chain fatty acids in the tissues of the central and …

More than 650 mutations in the ABCD1 gene have been found to cause X-linked adrenoleukodystrophy. This condition is characterized by varying degrees of cognitive and …

2024年11月11日 · This review will examine the genetic and biochemical functions of ABCD1, with a focus on analyzing ABCD1 mutations using data from the X-ALD mutation database to …

2023年2月22日 · Dysfunctions of ATP-binding cassette, subfamily D, member 1 (ABCD1) cause X-linked adrenoleukodystrophy, a rare neurodegenerative disease that affects all human …

2022年1月10日 · We present cryo-EM structures of ABCD1 in phospholipid nanodiscs in a nucleotide bound conformation open to the peroxisomal lumen and an inward facing …