Article
Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms.
Molecular genetics and metabolism - 1 Aug 2002
Blasi Paola, Boyl Pietro Pilo, Ledda Mario, Novelletto Andrea, Gibson K Michael, Jakobs Cornelis, Hogema Boris, Akaboshi Shinjiro, Loreni Fabrizio, Malaspina Patrizia
Abstract excerpt
Mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase (ALDH5A1, SSADH) represents the last enzyme in the GABA catabolism and irreversibly oxidizes SSA to succinate. In human, SSADH deficiency results in 4-hydroxybutyric aciduria, an autosomal recessive disorder due to an accumulation of GABA and 4-hydroxybutyric acid in the CNS. We already identified SSADH gene on human chromosome 6p22 and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.