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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. [5] BCKDK is found in the mitochondrial matrix and the prevalence of it depends on the type ...
Branched-chain keto acid dehydrogenase kinase deficiency (BCKDK deficiency) is a disease resulting from mutations of the BCKDK gene. Patients with BCKDK deficiency have low levels of branched chain amino acids (BCAA) in their organism due to accelerated breakdown of these essential amino acids.
Mutations of the BCKDK gene, whose protein product controls the activity of the complex, may result in over-activation of the complex and excessive catabolism of the three amino acids. This leads to branched-chain keto acid dehydrogenase kinase deficiency , a rare disease first described in humans in 2012.
12039 Ensembl ENSG00000248098 ENSMUSG00000060376 UniProt P12694 P50136 RefSeq (mRNA) NM_001164783 NM_000709 NM_007533 RefSeq (protein) NP_000700 NP_001158255 n/a Location (UCSC) Chr 19: 41.4 – 41.43 Mb Chr 7: 25.33 – 25.36 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse A 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial is an enzyme that in humans is encoded by the ...
In cell biology, protein kinase C, commonly abbreviated to PKC (EC 2.7.11.13), is a family of protein kinase enzymes that are involved in controlling the function of other proteins through the phosphorylation of hydroxyl groups of serine and threonine amino acid residues on these proteins, or a member of this family.
12040 Ensembl ENSG00000083123 ENSMUSG00000032263 UniProt P21953 Q6P3A8 RefSeq (mRNA) NM_000056 NM_183050 NM_001318975 NM_199195 NM_001305935 RefSeq (protein) NP_000047 NP_001305904 NP_898871 NP_001292864 NP_954665 Location (UCSC) Chr 6: 80.11 – 80.35 Mb Chr 9: 83.81 – 84.01 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse 2-Oxoisovalerate dehydrogenase subunit beta, mitochondrial ...
Oxidative stress is the most powerfully specific stress activating p38 MAPK. [7] Abnormal activity (higher or lower than physiological) of p38 has been implicated in pathological stresses in several tissues, that include neuronal, [8] [9] [10] bone, [11] lung, [12] cardiac and skeletal muscle, [13] [14] red blood cells, [15] and fetal tissues. [16]
Pyruvate dehydrogenase lipoamide kinase isozyme 4, mitochondrial (PDK4) is an enzyme that in humans is encoded by the PDK4 gene. [5] [6] It codes for an isozyme of pyruvate dehydrogenase kinase. This gene is a member of the PDK/BCKDK protein kinase family and encodes a mitochondrial protein with a histidine kinase domain.