SFTPB wt Allele

Preferred Label : SFTPB wt Allele;

NCIt synonyms : Surfactant Protein B wt Allele; SFTB3; SP-B; Pulmonary Surfactant-Associated Protein, 18-kD Gene; Surfactant-Associated Protein, Pulmonary, 3 Gene; Surfactant, Pulmonary-Associated Protein B Gene; PSP-B; SFTP3; SMDP1;

NCIt definition : Human SFTPB wild-type allele is located in the vicinity of 2p11.2 and is approximately 11 kb in length. This allele, which encodes pulmonary surfactant-associated protein B, is involved in respiratory airway homeostasis. Mutations in the gene are associated with pulmonary surfactant metabolism dysfunction type 1 (pulmonary alveolar proteinosis due to surfactant protein B deficiency).;

NCI Metathesaurus CUI : CL1664687;

GenBank Accession Number : J02761;

Details

Origin ID

C181837;

UMLS CUI

C5551203;

Automatic exact mappings (from CISMeF team)
- Surfactant metabolism dysfunction, pulmonary, 1 [OMIM Phenotype]
- Surfactant, pulmonary-associated protein b [OMIM gene]
- surfactant protein B [ORDO Gene]
OMIM relation
- Surfactant, pulmonary-associated protein b [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Lung Development [NCIt concept]
- Respiratory Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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