ABCA3 wt Allele

Preferred Label : ABCA3 wt Allele;

NCIt synonyms : ATP Binding Cassette Subfamily A Member 3 wt Allele; ATP-Binding Cassette, Subfamily A, Member 3 Gene; SMDP3; ABC3; ATP-Binding Cassette, Sub-Family A (ABC1), Member 3 Gene; LBM180; CED7, C. elegans, Homolog of Gene; ABC-C; EST111653;

NCIt definition : Human ABCA3 wild-type allele is located in the vicinity of 16p13.3 and is approximately 65 kb in length. This allele, which encodes phospholipid-transporting ATPase ABCA3 protein, is involved in ATP-dependent phospholipid and xenobiotic transport. Mutation of the gene is associated with pulmonary surfactant metabolism dysfunction type 3.;

NCI Metathesaurus CUI : CL1798436;

GenBank Accession Number : U78735;

Details

Origin ID

C189760;

UMLS CUI

C5702690;

Automatic exact mappings (from CISMeF team)
- ATP binding cassette subfamily A member 3 [ORDO Gene]
- Atp-binding cassette, subfamily a, member 3 [OMIM gene]
- Surfactant metabolism dysfunction, pulmonary, 3 [OMIM Phenotype]
OMIM relation
- Atp-binding cassette, subfamily a, member 3 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 16p13.3 [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]
- Lung Development [NCIt concept]
- Nucleotide Metabolic Process [NCIt concept]
- Respiratory Process [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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