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, x-linked and protoporphyria, erythropoietic, x-linked. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include pyridoxal phosphate binding and glycine binding. An important paralog of this gene is GCAT.