5-Aminolevulinate Synthetase

An enzyme of the transferase class that catalyzes condensation of the succinyl group from succinyl coenzyme A with glycine to form delta-aminolevulinate. It is a pyridoxyal phosphate protein and the reaction occurs in mitochondria as the first step of the heme biosynthetic pathway. The enzyme is a key regulatory enzyme in heme biosynthesis. In liver feedback is inhibited by heme. EC
Also Known As:
5-Aminolevulinate Synthase; delta-Aminolevulinic Acid Synthetase; 5 Aminolevulinate Synthase; 5 Aminolevulinate Synthetase; Acid Synthetase, Aminolevulinic; Acid Synthetase, delta-Aminolevulinic; Synthase, 5-Aminolevulinate; Synthase, delta-Aminolevulinate; Synthetase, 5-Aminolevulinate; Synthetase, Aminolevulinic Acid; Synthetase, delta-Aminolevulinic Acid; delta Aminolevulinate Synthase; delta Aminolevulinic Acid Synthetase; Aminolevulinic Acid Synthetase; delta-Aminolevulinate Synthase; Succinyl-CoA:glycine C-Succinyltransferase (decarboxylating)
Networked: 86 relevant articles (0 outcomes, 1 trials/studies)

Bio-Agent Context: Research Results


1. Desnick, Robert J: 3 articles (01/2013 - 01/2012)
2. Balwani, Manisha: 3 articles (01/2013 - 01/2012)
3. Takahashi, Toru: 3 articles (04/2005 - 01/2003)
4. Morita, Kiyoshi: 3 articles (04/2005 - 01/2003)
5. Akagi, Reiko: 3 articles (04/2005 - 01/2003)
6. Harigae, Hideo: 2 articles (02/2014 - 12/2010)
7. Kaneko, Kiriko: 2 articles (02/2014 - 03/2009)
8. Shibahara, Shigeki: 2 articles (02/2014 - 03/2009)
9. Furuyama, Kazumichi: 2 articles (02/2014 - 03/2009)
10. Beaumont, Carole: 2 articles (08/2011 - 06/2011)

Related Diseases

1. Porphyrias
2. Sideroblastic Anemia
3. Hepatic Porphyrias (Hepatic Porphyria)
4. Anemia
5. Iron Overload
05/01/2005 - "Iron overload in an African American woman with SS hemoglobinopathy and a promoter mutation in the X-linked erythroid-specific 5-aminolevulinate synthase (ALAS2) gene."
01/01/2008 - "X-linked sideroblastic anemia (XLSA) is associated with iron overload and mutations in ALAS2, which encodes 5-aminolevulinate synthase. "
05/01/2005 - "We report the case of an African American woman with sickle cell anemia and iron overload incompletely explained by erythrocyte transfusion who is heterozygous for a promoter mutation in the X-linked erythroid-specific 5-aminolevulinate synthase gene (ALAS2): a C to G transversion at nucleotide -206 from the transcription start site, as defined by primer extension (-258 from the start ATG). "
03/01/1999 - "Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis."
01/01/2012 - "These advances include DNA-based diagnoses for all the porphyrias, new understanding of the pathogenesis of the acute hepatic porphyrias, identification of the iron overload-induced inhibitor of hepatic uroporphyrin decarboxylase activity that causes the most common porphyria, porphyria cutanea tarda, the identification of an X-linked form of erythropoietic protoporphyria due to gain-of-function mutations in erythroid-specific 5-aminolevulinate synthase (ALAS2), and new and experimental treatments for the erythropoietic prophyrias. "

Related Drugs and Biologics

1. 5-Aminolevulinate Synthetase
2. Heme (Haem)
3. Hemin (Panhematin)
4. Pyridoxine (Pyridoxin)
5. Cytochrome P-450 Enzyme System (Cytochrome P450)
6. X-linked sideroblastic anemia
7. Heme Oxygenase-1
8. Iron
9. Heme Oxygenase (Decyclizing) (Heme Oxygenase)
10. Enzymes

Related Therapies and Procedures

1. Transplants (Transplant)
2. Erythrocyte Transfusion
3. Liver Transplantation
4. Transplantation (Transplant Recipients)
5. Ligation