BCKDHA is a coding gene that is part of the BCKD complex (branched-chain alpha-keto acid dehydrogenase). BCKDHA was discovered by John Menkes in 1954. After he had seen a family with four children die only a few months after birth, he …

The BCKDHA gene provides instructions for making one part, the alpha subunit, of a group of enzymes called the branched-chain alpha-keto acid dehydrogenase (BCKD) enzyme complex. Learn about this gene and related health conditions.

Gene ID: 593, updated on 8-Feb-2025. The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched …

Dec 24, 2024 · BCKDHA (Branched Chain Keto Acid Dehydrogenase E1 Subunit Alpha) is a Protein Coding gene. Diseases associated with BCKDHA include Maple Syrup Urine Disease, Type Ia and Intermediate Maple Syrup Urine Disease. Among its related pathways are Leucine, isoleucine and valine metabolism and 2-oxobutanoate degradation.

Apr 1, 2020 · Branched-chain α-keto acid dehydrogenase kinase (BCKDK), the key enzyme of branched-chain amino acids (BCAAs) metabolism, has been reported to promote colorectal cancer (CRC) tumorigenesis by...

Nov 2, 2009 · The BCKDHA gene encodes the E1-alpha subunit of the branched-chain alpha-keto acid (BCAA) dehydrogenase complex (BCKD; EC 1.2.4.4), an inner-mitochondrial enzyme complex that catalyzes the oxidative decarboxylation of the branched-chain alpha-ketoacids derived from isoleucine, leucine, and valine.

Nov 27, 2024 · Go to Variation Viewer for BCKDHA variants Summary The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acids leucine, isoleucine, and valine.

Feb 26, 2025 · In summary, we developed a one-time BCKDHA-BCKDHB systemic dual-gene replacement strategy that holds promise as a therapeutic alternative to prescription diet and liver transplant for treatment of MSUD types 1A and 1B, the …

Feb 8, 2025 · BCKDHA contributes to melanoma progression by promoting the expressions of lipogenic enzymes FASN and ACLY. Disruption of the BDK gene establishes that regulation of BCKDH by phosphorylation is critically important for the regulation of oxidative disposal of branched-chain amino acids.

Aug 9, 2023 · Branched chain ketoacid dehydrogenase (BCKDH) controls the rate limiting step in BCAA degradation, the activity of which is inhibited by BCKDH kinase (BDK)-mediated...