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ABCD4

Gene

ATP binding cassette subfamily D member 4

HGNCHGNC:68EnsemblENSG00000119688NCBI Gene5826
Locus: gene with protein productLocation: 14q24.3

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asPXMP1L · PMP69 · P70R · EST352188
View full nomenclature history (6)
Previous symbolsPXMP1L
Alias symbolsPMP69, P70R, EST352188
Previous namesATP-binding cassette, sub-family D (ALD), member 4
Alias namesLysosomal cobalamin transporter ABCD4

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

Vitamin B Deficiency
Alcohol drinking
Genetic Diseases, Inborn
Adrenoleukodystrophy

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Gene family

HGNC gene-group membership.

ATP binding cassette subfamily D

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2024-09-16.
Open TargetsGene–disease associations from the Open Targets Platform.