ABCA1 wt Allele

Preferred Label : ABCA1 wt Allele;

NCIt synonyms : ATP-Binding Cassette, Subfamily A, Member 1 Gene; ABC1; HDLDT1; TGD; CERP; ATP-Binding Cassette, Sub-Family A (ABC1), Member 1 wt Allele; ABC-1; Tangier Disease Gene;

NCIt definition : Human ABCA1 wild-type allele is located in the vicinity of 9q31 and is approximately 147 kb in length. This allele, which encodes ATP-binding cassette sub-family A member 1 protein, is involved in intracellular cholesterol transport. Mutation of the gene is associated with high density lipoprotein deficiency type 2 (autosomal dominant) and Tangier disease.;

GenBank Accession Number : AJ012376;

Details

Origin ID

C116409;

UMLS CUI

C3889658;

Automatic exact mappings (from CISMeF team)
- ATP binding cassette subfamily A member 1 [ORDO Gene]
- Atp-binding cassette, subfamily a, member 1 [OMIM gene]
- Tangier disease [OMIM Phenotype]
- Tangier disease [ORDO Disease]
- tangier disease [MeSH Descriptor]
OMIM relation
- Atp-binding cassette, subfamily a, 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
- 9q31 [NCIt concept]
gene_is_element_in_pathway
- ABC Transporter Pathway [NCIt concept]
- RXR and RAR Heterodimerization with Other Nuclear Receptor Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- ATP Hydrolysis [NCIt concept]
- Cholesterol Homeostasis [NCIt concept]
- Intracellular Transport [NCIt concept]
- Ligand Binding [NCIt concept]
- Lipid Transport [NCIt concept]
- Nucleotide Metabolic Process [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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