Aminolevulinate Delta Synthase 1 (ALAS1)

ALAS3; ALAS; ALASH; 5-aminolevulinic acid synthase 1; Delta-ALA synthase 1; 5-aminolevulinate synthase, nonspecific, mitochondrial

SPN	R593
HGNC	396
MGI	87989
PubMed	2347585
RGD	68392
UniProt	P13196
Wiki	ALAS1

Delta-aminolevulinate synthase 1 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.

ALAS1encodes a housekeeping form of ALAS inasmuch as it is expressed in all cell types, including erythroid cells, whereas ALAS2 encodes a red cell-specific form. ALAS1 and ALAS2 have only 59% identity in amino acid sequence; there was no homology in the amino-terminal region and about 73% homology after hepatic residue 197.

Reference

"Two different genes encode delta-aminolevulinate synthase in humans: nucleotide sequences of cDNAs for the housekeeping and erythroid genes."
Nucleic Acids Res. 18:7187-7188(1990) [PubMed] [Europe PMC] [Abstract]

"Sequence of human 5-aminolevulinate synthase cDNA."
Nucleic Acids Res. 15:8563-8563(1987) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]