ABCD1
Chr XXLRATP binding cassette subfamily D member 1
Also known as: ABC42, ALD, ALDP, AMN
The ABCD1 protein is a peroxisomal membrane transporter that imports very long chain fatty acids into peroxisomes for catabolism. Mutations cause X-linked recessive adrenoleukodystrophy and adrenomyeloneuropathy through accumulation of very long chain fatty acids that damage myelin and adrenal cortex. Loss-of-function mutations disrupt peroxisomal fatty acid transport, leading to toxic buildup of these lipids in tissues.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ABCD1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
The Myelin Disorders Biorepository Project
RECRUITINGIT and IV Lentiviral Gene Therapy for X-ALD
RECRUITINGRegistry of X-linked Adrenoleukodystrophy
RECRUITINGModeling Macrophages Activation Pattern in X-linked Adrenoleukodystrophy, Metachromatic Leukodystrophy and Adult Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia
RECRUITINGEpidural Spinal Cord Stimulation for Lower-limb Impairment in Adrenomyeloneuropathy
RECRUITINGQuality of Life in Women with X-linked Adrenoleukodystrophy
RECRUITINGExternal Resources
Links to major genomics databases and tools