Search for a gene
SFTPC - surfactant protein C
- Synonym(s) : BRICD6, BRICHOS domain containing 6, PSP-C, SMDP2, SP-C
- Previous symbols and names : 'surfactant, pulmonary-associated protein C', SFTP2, Surfactant, pulmonary-associated protein C
- Type : gene with protein product
- Chromosomal location : 8p21.3
- OMIM: 178620
- HGNC: 10802
- UniProtKB: P11686
- Genatlas: SFTPC
- GenCC: SFTPC
- Ensembl: ENSG00000168484
- IUPHAR-DB: -
- Reactome: P11686
- LOVD: SFTPC
Diseases list
- Disease-causing germline mutation(s) in Chronic respiratory distress with surfactant metabolism deficiency
ORPHA:217566 
- Disease-causing germline mutation(s) in Interstitial lung disease due to SP-C deficiency
ORPHA:440392 - Major susceptibility factor in Idiopathic pulmonary fibrosis
ORPHA:2032 - Major susceptibility factor in Infant acute respiratory distress syndrome
ORPHA:70587
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.