ABCA2 wt Allele

Preferred Label : ABCA2 wt Allele;

NCIt synonyms : ATP-Binding Cassette, Sub-Family A (ABC1), Member 2 wt Allele; MGC129761; ABC2;

NCIt definition : Human ABCA2 wild-type allele is located in the vicinity of 9q34 and is approximately 22 kb in length. This allele, which encodes ATP-binding cassette sub-family A member 2 protein, may play a role in the mediation of cholesterol transport, and neural development.;

NCIt note : The ABCA2 gene may be involved in a translocation in basal-like breast cancers. (Nature. 2010; 464: 999-1005);

GenBank Accession Number : U18235;

PubMed : 20393555;

Details

Origin ID

C89024;

UMLS CUI

C2982462;

OMIM relation
- Atp-binding cassette, subfamily a, member 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 9q34 [NCIt concept]
gene_is_element_in_pathway
- ABC Transporter Pathway [NCIt concept]
- Lysosome Assembly Pathway [NCIt concept]
gene_plays_role_in_process
- Cholesterol Homeostasis [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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