ALAS2

ALAS2
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1H7D, 1H7J
Identifiers
Aliases	ALAS2, ALAS-E, ALASE, ANH1, ASB, XLDPP, XLEPP, XLSA, SIDBA1, 5'-aminolevulinate synthase 2
External IDs	OMIM: 301300; MGI: 87990; HomoloGene: 17; GeneCards: ALAS2; OMA:ALAS2 - orthologs
Gene location (Human)
Chr.	X chromosome (human)
End	55,030,977 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	149,353,634 bp
RNA expression pattern
	Top expressed in
	trabecular bone; ; bone marrow; ; bone marrow cells; ; blood; ; mononuclear cell; ; monocyte; ; testicle; ; placenta; ; ganglionic eminence; ; spleen;
	Top expressed in
	blood; ; fetal liver hematopoietic progenitor cell; ; tibiofemoral joint; ; spleen; ; human fetus; ; internal carotid artery; ; left lung; ; external carotid artery; ; right lung; ; right lung lobe;
	More reference expression data
	n/a
Gene ontology
Molecular function	transferase activity; glycine binding; protein binding; catalytic activity; pyridoxal phosphate binding; acyltransferase activity; 5-aminolevulinate synthase activity;
Cellular component	mitochondrial matrix; mitochondrion; mitochondrial inner membrane;
Biological process	response to hypoxia; protoporphyrinogen IX biosynthetic process; biosynthesis; tetrapyrrole biosynthetic process; heme biosynthetic process; hemoglobin biosynthetic process; erythrocyte differentiation; metabolism; oxygen homeostasis; cellular iron ion homeostasis; porphyrin-containing compound metabolic process;
	Sources:Amigo / QuickGO
Orthologs
	212
	11656
	ENSG00000158578
	ENSMUSG00000025270
	P22557
	P08680
	NM_000032; NM_001037967; NM_001037968; NM_001037969
	NM_001102446; NM_009653
	NP_000023; NP_001033056; NP_001033057
	NP_001095916; NP_033783
	Wikidata
View/Edit Human	View/Edit Mouse

Delta-aminolevulinate synthase 2 also known as ALAS2 is a protein that in humans is encoded by the ALAS2 gene. ALAS2 is an aminolevulinic acid synthase.

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.

Its gene contains an IRE in its 5'-UTR region on which an IRP binds if the iron level is too low, thus inhibiting its translation.