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ABCA3 - ATP binding cassette subfamily A member 3
- Synonym(s) : ABC-C, EST111653, LBM180
- Previous symbols and names : ABC3, ATP-binding cassette, sub-family A (ABC1), member 3
- Type : gene with protein product
- Chromosomal location : 16p13.3
- OMIM: 601615
- HGNC: 33
- UniProtKB: Q99758
- Genatlas: ABCA3
- GenCC: ABCA3
- Ensembl: ENSG00000167972
- IUPHAR-DB: 758
- Reactome: Q99758
- LOVD: ABCA3
Diseases list
- Disease-causing germline mutation(s) (loss of function) in Interstitial lung disease due to ABCA3 deficiency
ORPHA:440402 
- Candidate gene tested in Idiopathic pulmonary fibrosis
ORPHA:2032 - Candidate gene tested in Infant acute respiratory distress syndrome
ORPHA:70587
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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