ABCA7 wt Allele

Preferred Label : ABCA7 wt Allele;

NCIt synonyms : ATP-Binding Cassette, Sub-Family A (ABC1), Member 7 Gene; ATP Binding Cassette Subfamily A Member 7 wt Allele; AD9; ABCX; ABCA-SSN; ATP-Binding Cassette, Subfamily A, Member 7 Gene;

NCIt definition : Human ABCA7 wild-type allele is located in the vicinity of 19p13.3 and is approximately 25 kb in length. This allele, which encodes phospholipid-transporting ATPase ABCA7 protein, is involved in phagocytosis of apoptotic cells by macrophages and lipid transport. Deletion and nonsense mutations in the gene are associated with susceptibility to Alzheimer disease type 9.;

NCI Metathesaurus CUI : CL970816;

GenBank Accession Number : AF328787;

Details

Origin ID

C162366;

UMLS CUI

C5202749;

Automatic exact mappings (from CISMeF team)
- ATP binding cassette subfamily A member 7 [ORDO Gene]
- Alzheimer disease 9, susceptibility to [OMIM Phenotype]
- Alzheimer's disease 9 [DO Concept]
- Atp-binding cassette, subfamily a, member 7 [OMIM gene]
OMIM relation
- Atp-binding cassette, subfamily a, member 7 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 19p13.3 [NCIt concept]
gene_is_element_in_pathway
- ABC Transporter Pathway [NCIt concept]
gene_plays_role_in_process
- ATP Hydrolysis [NCIt concept]
- Ligand Binding [NCIt concept]
- Lipid Transport [NCIt concept]
- Nucleotide Metabolic Process [NCIt concept]
- Phagocytosis [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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