ALAS1

ALAS1
Identifiers
Aliases	ALAS1, ALAS, ALAS3, ALASH, MIG4, ALAS-H, 5'-aminolevulinate synthase 1
External IDs	OMIM: 125290; MGI: 87989; HomoloGene: 55478; GeneCards: ALAS1; OMA:ALAS1 - orthologs
Gene location (Human)
Chr.	Chromosome 3 (human)
End	52,214,327 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	106,125,853 bp
RNA expression pattern
	Top expressed in
	right adrenal cortex; ; left adrenal gland; ; left adrenal cortex; ; oocyte; ; secondary oocyte; ; right lobe of liver; ; right ventricle; ; myocardium of left ventricle; ; mucosa of transverse colon; ; apex of heart;
	Top expressed in
	adrenal gland; ; right kidney; ; right lung; ; right lung lobe; ; lacrimal gland; ; brown adipose tissue; ; cardiac muscle tissue of left ventricle; ; muscle of thigh; ; right ventricle; ; granulocyte;
	More reference expression data
	n/a
Gene ontology
Molecular function	transferase activity; pyridoxal phosphate binding; acyltransferase activity; protein binding; catalytic activity; 5-aminolevulinate synthase activity; identical protein binding;
Cellular component	mitochondrial matrix; mitochondrion; nucleoplasm; cytosol;
Biological process	heme biosynthetic process; mitochondrion organization; metabolism; protoporphyrinogen IX biosynthetic process; biosynthesis; tetrapyrrole biosynthetic process; porphyrin-containing compound metabolic process; regulation of lipid metabolic process;
	Sources:Amigo / QuickGO
Orthologs
	211
	11655
	ENSG00000023330
	ENSMUSG00000032786
	P13196
	Q8VC19
	NM_000688; NM_001304443; NM_001304444; NM_199166
	NM_001291835; NM_020559
	NP_000679; NP_001291372; NP_001291373; NP_954635
	NP_001278764; NP_065584
	Wikidata
View/Edit Human	View/Edit Mouse

Delta-aminolevulinate synthase 1 also known as ALAS1 is a protein that in humans is encoded by the ALAS1 gene. ALAS1 is an aminolevulinic acid synthase.

Delta-aminolevulinate synthase catalyzes the condensation of glycine with succinyl-CoA to form delta-aminolevulinic acid. This nuclear-encoded mitochondrial enzyme is the first and rate-limiting enzyme in the mammalian heme biosynthetic pathway. There are 2 tissue-specific isozymes: a housekeeping enzyme encoded by the ALAS1 gene and an erythroid tissue-specific enzyme encoded by ALAS2.

Mice lacking this gene exhibit embryonic lethality, indicating that ALAS is essential for early embryogenesis.