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IDMYS

Chr 12

ATP binding cassette subfamily C member 9

Also known as: ABC37, ATFB12, CANTU, CMD1O, IDMYS, SUR2

NCBI Gene: 10060

This gene encodes an ATP-binding cassette transporter that forms ATP-sensitive potassium channels in cardiac, skeletal, and smooth muscle tissues. Biallelic mutations cause intellectual disability and myopathy syndrome, an autosomal recessive condition affecting both the nervous system and muscle function. The syndrome involves developmental delays and muscle weakness due to disrupted potassium channel function in multiple tissue types.

ResearchSummary from RefSeq, OMIM

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]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP missense

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LOEUF

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Mechanism

Some data sources returned errors (3)