ABCD1 wt Allele

Preferred Label : ABCD1 wt Allele;

NCIt synonyms : ATP-Binding Cassette, Sub-Family D (ALD), Member 1 Gene; ALDP; ALD; ABC42; AMN; ATP Binding Cassette Subfamily D Member 1 wt Allele; ATP-Binding Cassette, Subfamily D, Member 1 Gene;

NCIt definition : Human ABCD1 wild-type allele is located in the vicinity of Xq28 and is approximately 20 kb in length. This allele, which encodes ATP-binding cassette sub-family D member protein, is involved in fatty acid import into the peroxisome. Mutation of the gene is associated with adrenoleukodystrophy and adult adrenomyeloneuropathy.;

NCI Metathesaurus CUI : CL550393;

GenBank Accession Number : Z21876;

Details

Origin ID

C142194;

UMLS CUI

C4552861;

Automatic exact mappings (from CISMeF team)
- ATP binding cassette subfamily D member 1 [ORDO Gene]
- Adrenoleukodystrophy [OMIM Phenotype]
- Alcoholic liver disease [ICD-11 Category]
- Aldolase [LOINC component]
- Amnion-associated transmembrane protein [OMIM gene]
- Atp-binding cassette, subfamily D, member 1 [OMIM gene]
- X-linked adrenoleukodystrophy [ORDO Disease]
- adrenoleukodystrophy [DO Concept]
- adrenoleukodystrophy [MeSH Descriptor]
- amnion associated transmembrane protein [ORDO Gene]
- chronic disease [MeSH Descriptor]
- fructose-bisphosphate aldolase [MeSH Descriptor]
False automatic mappings
- Adrenoleukodystrophy [ICD-11 Subcategory]
OMIM relation
- Atp-binding cassette, subfamily D, member 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- Xq28 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Adrenoleukodystrophy [NCIt concept]
gene_is_element_in_pathway
- ABC Transporter Pathway [NCIt concept]
- Peroxisome Biogenesis Pathway [NCIt concept]
gene_plays_role_in_process
- ATP Hydrolysis [NCIt concept]
- Fatty Acid Metabolism [NCIt concept]
- Intracellular Transport [NCIt concept]
- Ligand Binding [NCIt concept]
- Lipid Transport [NCIt concept]
- Nucleotide Metabolic Process [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

Main resources

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