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
JoGo
ABCD1
TogoVar
ABCD1
Annotation
Keyword
  • 3D-structure
  • ATP-binding
  • Disease variant
  • Endoplasmic reticulum
  • Glycoprotein
  • Hydrolase
  • Lysosome
  • Mitochondrion
  • Peroxisome
  • Phosphoprotein
  • Proteomics identification
  • 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 111 - 120 of 131 in total
HPO ID HPO Term
HP:0008207 Primary adrenal insufficiency
HP:0008969 Leg muscle stiffness
HP:0009053 Distal lower limb muscle weakness
HP:0009830 Peripheral neuropathy
HP:0010284 Intra-oral hyperpigmentation
HP:0010527 Astereognosis
HP:0010794 Impaired visuospatial constructive cognition
HP:0011448 Ankle clonus
HP:0011749 Adrenocorticotropic hormone excess
HP:0012378 Fatigue
Displaying all 5 entries
Disease ID Disease Name
ORPHA:139396
  • X-linked cerebral adrenoleukodystrophy
ORPHA:139399
  • adrenomyeloneuropathy
ORPHA:388
  • Hirschsprung disease
OMIM:300100
  • adrenoleukodystrophy
ORPHA:369942
  • CADDS

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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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