Automated description from the Alliance of Genome Resources (Release 8.3.0)
Contributes to potassium channel activity. Acts upstream of or within with a positive effect on cardiac muscle cell contraction. Acts upstream of or within several processes, including cellular response to ATP; heart development; and oxygen metabolic process. Located in sarcomere. Part of protein-containing complex. Is active in mitochondrion and sarcolemma. Is expressed in several structures, including alimentary system; heart; musculoskeletal system; nervous system; and nose. Used to study coronary artery disease and hypertrichotic osteochondrodysplasia Cantu type. Human ortholog(s) of this gene implicated in dilated cardiomyopathy; dilated cardiomyopathy 1O; familial atrial fibrillation; hypertrichotic osteochondrodysplasia Cantu type; and intellectual disability and myopathy syndrome. Orthologous to human ABCC9 (ATP binding cassette subfamily C member 9).
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