Aliases for ALAS2 Gene
External Ids for ALAS2 Gene
Previous HGNC Symbols for ALAS2 Gene
Previous GeneCards Identifiers for ALAS2 Gene
The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
GeneCards Summary for ALAS2 Gene
ALAS2 (5'-Aminolevulinate Synthase 2) is a Protein Coding gene. Diseases associated with ALAS2 include Anemia, Sideroblastic, 1 and Protoporphyria, Erythropoietic, X-Linked. Among its related pathways are Porphyrin and chlorophyll metabolism and Glycine, serine and threonine metabolism. Gene Ontology (GO) annotations related to this gene include pyridoxal phosphate binding and glycine binding. An important paralog of this gene is ALAS1.