ATP binding cassette subfamily D member 1

Summary
Gene Symbol
  • ABCD1
Aliases
  • ALDP
  • AMN
  • adrenoleukodystrophy
Organism
Homo sapiens (human)
NCBI Gene
215
HGNC
61
PubChem
215
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • ATP-binding
  • Disease variant
  • Endoplasmic reticulum
  • Glycoprotein
  • Hydrolase
  • Lysosome
  • Mitochondrion
  • Peroxisome
  • Phosphoprotein
  • Reference proteome
  • Translocase
  • Transmembrane helix
  • Transport
Proteins
Displaying 1 entry
UniProt Protein Name
P33897
  • Adrenoleukodystrophy protein
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
Disease
Disease Ontology
Displaying 1 entry
DO ID Disease Name Source
DOID:10588 adrenoleukodystrophy
The Human Phenotype Ontology
Displaying entries 41 - 50 of 131 in total
HPO ID HPO Term
HP:0001288 Gait disturbance
HP:0001289 Confusion
HP:0001310 Dysmetria
HP:0001328 Specific learning disability
HP:0001332 Dystonia
HP:0001347 Hyperreflexia
HP:0001350 Slurred speech
HP:0001396 Cholestasis
HP:0001419 X-linked recessive inheritance
HP:0001511 Intrauterine growth retardation
Displaying all 5 entries
Disease ID Disease Name
OMIM:300100
  • adrenoleukodystrophy
ORPHA:139396
  • X-linked cerebral adrenoleukodystrophy
ORPHA:369942
  • CADDS
ORPHA:388
  • Hirschsprung disease
ORPHA:139399
  • adrenomyeloneuropathy

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025