BCKDK [SEP] chromosome
BCKDK
Branched chain ketoacid dehydrogenase kinase (BCKDK) is an enzyme encoded by the BCKDK gene on chromosome 16. This enzyme is part of the mitochondrial protein kinases family and it is a regulator of the valine, leucine, and isoleucine catabolic pathways. BCKDK is found in the mitochondrial matrix and the prevalence of it depends on the type of cell. Liver cells tend to have the lowest concentration of BCKDK, whereas skeletal muscle cells have the highest amount. Abnormal activity of this enzyme often leads to diseases such as maple syrup
gene Branched Chain Ketoacid Dehydrogenase Kinase (BCKDK). Mutations found in BCKDK were found in consanguineous families with epilepsy, autism, and intellectual disabilities. Previously, the BCKDK was known to cause Maple Syrup Urine disease (MSUD). Mutations in this gene could potentially treat autism and epilepsy. The protein is capable of phosphorylation-mediated inactivation of E1α subunit of branched-chain ketoacid dehydrogenase (BCKDH). If a patient has a homozygous mutation (an identical mutation in both paternal and maternal alleles), then reductions are induced