ABCD1 (P33897) variants and mutations

ABCD1 (also known as P33897) is a human protein-coding gene encoding an ATP-binding cassette sub-family D member 1 protein. An ATP-powered transporter that moves very-long-chain fatty-acyl molecules into peroxisomes for processing. It supports fatty-acid breakdown, myelin maintenance, and energy metabolism, and loss of ABCD1 function causes X-linked adrenoleukodystrophy. This analysis covers 1,619 ABCD1 variants and mutations. Of these, 82% have computational variant effect predictions. Disease context includes adrenoleukodystrophy, X-linked adrenoleukodystrophy, and hereditary disease. Example ABCD1 variants include M1V, P2T, and P2A.

Variant analysis overview

Gene: ABCD1
Protein: P33897
UniProt accession: P33897
Organism: Homo sapiens
Variants analyzed: 1619
Variant scope: all variants
Completed: 2026-07-26

Variant and mutation evidence

Variant composition: 1,118 unspecified-consequence records; 289 missense variants; 181 synonymous variants; 12 frameshift variants; 11 stop-gained variants; 1 in-frame insertions; 1 in-frame deletions; 6 substitution
Prediction scores: 1,321 variants have prediction scores (82% of the analyzed set).

Clinical, disease, and population context

Disease context: 25 disease associations are represented. Top associations: adrenoleukodystrophy, X-linked adrenoleukodystrophy, hereditary disease, Spastic paraparesis, X-linked cerebral adrenoleukodystrophy, neurodegenerative disease, chronic primary adrenal insufficiency, X-linked spondyloepimetaphyseal dysplasia, adrenomyeloneuropathy, Hirschsprung disease, Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome, musculocontractural type.

Protein structure and variant hotspots

Protein features: 5 transmembrane segments; 2 domains; 1 binding sites; 2 post-translational modification sites.
Structural context: 1,027 variants have structural context.
PTM context: 3 variants overlap post-translational modification sites.

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable ABCD1 variants

Examples include M1V, P2T, P2A, P2S, P2Q, P2L, P2P, V3M. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.

ABCD1 analysis run — ABCD1 (1,619 variants) — completed 2026-07-26