ALA synthetase-2 (ALAS2, erythroid-specific 5-aminolevulinate synthetase, erythrocytic aminolevulinate synthetase)

Function

• cofactor biosynthesis; porphyrin biosynthesis
• 5-aminolevulinate from glycine: step 1/1

succinyl-CoA + glycine <--> 5-aminolevulinate + CoA + CO2

Cofactor: pyridoxal phosphate

Structure

• homodimer
• belongs to the class-2 pyridoxal-phosphate-dependent aminotransferase family

Compartment

mitochondrial matrix

Expression

erythroid specific

Pathology

• defects in ALAS2 are a cause of X-linked sideroblastic anemia

Notes

• there are two delta-ALA synthetase in vertebrates:
• an erythroid-specific form (ALAS2)
• a housekeeping form expressed in all tissues (ALAS1)

More general terms

• aminolevulinic acid [ALA] synthetase
• mitochondrial protein

Database

• UniProt: http://www.uniprot.org/uniprot/P22557.html
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:212
• OMIM: https://mirror.omim.org/entry/301300