Structure and Function of the <i>ABCD1</i> Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy

Structure and Function of the <i>ABCD1</i> Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy

The progressive neurometabolic disorder X-linked adrenoleukodystrophy (ALD) is caused by pathogenic variants in the <i>ABCD1</i> gene, which encodes the peroxisomal ATP-binding transporter for very-long-chain fatty acids. The clinical spectrum of ALD includes adrenal insufficiency, myelo...

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Bibliographic Details
Main Authors: Eric J. Mallack, Kerry Gao, Marc Engelen, Stephan Kemp
Format: Article
Language:English
Published: MDPI AG 2022-01-01
Series:Cells
Subjects:
adrenoleukodystrophy
peroxisome
ABC transporter
newborn screening
genetics
diagnosis
Online Access:https://www.mdpi.com/2073-4409/11/2/283

Internet

https://www.mdpi.com/2073-4409/11/2/283

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