ABCD1

ATP binding cassette subfamily D member 1

2 disorders 2 untyped Xq28 gene with protein product

HGNC:61 Monarch NCBI Gene 215 ENSG00000101986 UniProt P33897 OMIM 300371

Previous symbols: ALD. Aliases: AMN, ALDP, adrenoleukodystrophy.

Normal function · from ai-gene-review (P33897, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status DRAFT; the description is shown only once the review is complete. Read the draft upstream.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
adrenoleukodystrophy	untyped X-linked causal pathogenic variant	mechanism: ABCD1-mediated peroxisomal fatty acid transport defect
Chronic Primary Adrenal Insufficiency	untyped Mutations cause X-linked adrenoleukodystrophy (X-ALD), in which very long chain fatty acid accumulation produces adrenal failure (often the presenting feature) and cerebral demyelination.

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
adrenoleukodystrophy MONDO:0018544	XL	Definitive 2020-12-18	adrenoleukodystrophy untyped

Mechanism modules · computed from kb/

peroxisomal_metabolic_failure via adrenoleukodystrophy

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.