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 1 - 10 of 131 in total
HPO ID HPO Term
HP:0000012 Urinary urgency
HP:0000016 Urinary retention
HP:0000020 Urinary incontinence
HP:0000026 Male hypogonadism
HP:0000135 Hypogonadism
HP:0000317 Facial myokymia
HP:0000347 Micrognathia
HP:0000365 Hearing impairment
HP:0000407 Sensorineural hearing impairment
HP:0000486 Strabismus
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

About Release Notes Help Feedback

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.2.1

Last updated: April 7, 2025