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ABCC9 - ATP binding cassette subfamily C member 9
- Synonym(s) : CMD1O, sulfonylurea receptor 2, SUR2
- Previous symbols and names : ATP-binding cassette, sub-family C (CFTR/MRP), member 9
- Type : gene with protein product
- Chromosomal location : 12p12.1
- OMIM: 601439
- HGNC: 60
- UniProtKB: O60706
- Genatlas: ABCC9
- Ensembl: ENSG00000069431
- IUPHAR-DB: 2746
- Reactome: O60706
- LOVD: ABCC9
Diseases list
- Disease-causing germline mutation(s) in Acromegaloid facial appearance syndrome
ORPHA:965 
- Disease-causing germline mutation(s) in Familial isolated dilated cardiomyopathy
ORPHA:154 - Disease-causing germline mutation(s) in Hypertrichosis-acromegaloid facial appearance syndrome
ORPHA:966 - Disease-causing germline mutation(s) in Hypertrichotic osteochondrodysplasia, Cantu type
ORPHA:1517 - Candidate gene tested in Brugada syndrome
ORPHA:130 - Candidate gene tested in Familial atrial fibrillation
ORPHA:334
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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