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This enzyme plays a role in the valine and pyrimidine catabolic pathways. The product of this gene, a mitochondrial methylmalonate semialdehyde dehydrogenase, catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA.
Hypervalinemia is a rare autosomal recessive metabolic disorder in which urinary and serum levels of the branched-chain amino acid valine are elevated, without related elevation of the branched-chain amino acids leucine and isoleucine. [2] [3] It is caused by a deficiency of the enzyme valine transaminase. [4]
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]
In animal tissue, BCKDC catalyzes an irreversible step [2] in the catabolism of the branched-chain amino acids L-isoleucine, L-valine, and L-leucine, acting on their deaminated derivatives (L-alpha-keto-beta-methylvalerate, alpha-ketoisovalerate, and alpha-ketoisocaproate, respectively) and converting them [3] to α-Methylbutyryl-CoA, Isobutyryl-CoA and Isovaleryl-CoA respectively.
L-valine + 2-oxoglutarate = 3-methyl-2-oxobutanoate + L-glutamate. Cells can further degrade BCKAs by the branched-chain keto acid dehydrogenase complex from which the carbon backbones of each BCAA may enter distinct degradation pathways. [7] The oncogenic transcription factor Myc is frequently reported to drive BCAT1 expression. [8] [9] [10]
Glycated hemoglobin (also called glycohemoglobin) is a form of hemoglobin (Hb) that is chemically linked to a sugar. 'Glycosylated haemoglobin' is a misnomer, as glycation and glycosylation are different processes, of which only the former is relevant in this case.
V600E is a mutation of the BRAF gene in which valine (V) is substituted by glutamic acid (E) at amino acid 600. [1] [2] It is a driver mutation in a proportion of certain diagnoses, including melanoma, [3] [4] hairy cell leukemia, [5] [6] papillary thyroid carcinoma, [7] [8] colorectal cancer, [9] non-small-cell lung cancer, [10] [11] Langerhans cell histiocytosis, [12] Erdheim–Chester ...
70359 Ensembl ENSG00000130299 ENSMUSG00000007610 UniProt Q969Y2 Q923K4 RefSeq (mRNA) NM_133644 NM_001128855 NM_001195422 NM_032620 NM_032544 RefSeq (protein) NP_001122327 NP_001182351 NP_116009 NP_598399 NP_115933 Location (UCSC) Chr 19: 17.33 – 17.34 Mb Chr 8: 71.49 – 71.5 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse tRNA modification GTPase GTPBP3, mitochondrial is an enzyme ...