ABCC9 ATP binding cassette subfamily C member 9
Gene ID: 10060, updated on 18-Sep-2024Gene type: protein coding
Also known as: SUR2; ABC37; CANTU; CMD1O; IDMYS; ATFB12
- See all available tests in GTR for this gene
- Go to complete Gene record for ABCC9
- Go to Variation Viewer for ABCC9 variants
Summary
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is thought to form ATP-sensitive potassium channels in cardiac, skeletal, and vascular and non-vascular smooth muscle. Protein structure suggests a role as the drug-binding channel-modulating subunit of the extra-pancreatic ATP-sensitive potassium channels. Mutations in this gene are associated with cardiomyopathy dilated type 1O. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology. GeneReviews: Not available | |
| Atrial fibrillation, familial, 12 | See labs |
| Dilated cardiomyopathy 1O | See labs |
| Hypertrichotic osteochondrodysplasia Cantu type | See labs |
| Intellectual disability and myopathy syndrome | See labs |
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available | |
| Primary dilated cardiomyopathy MedGen: C0007193GeneReviews: Dilated Cardiomyopathy Overview | See labs |
Genomic context
- Location:
- 12p12.1
- Sequence:
- Chromosome: 12; NC_000012.12 (21797389..21941426, complement)
- Total number of exons:
- 42
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ABCC9 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ABCC9 database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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