Search results for ALAS2
Showing 3 results out of 3
Protein (1 results from a total of 1)
Identifier: R-HSA-1022083
Species:
Homo sapiens
Compartment:
mitochondrial matrix
Primary external reference: UniProt: ALAS2:
P22557
Complex (1 results from a total of 1)
Identifier: R-HSA-189443
Species:
Homo sapiens
Compartment:
mitochondrial matrix
Reaction (1 results from a total of 1)
Identifier: R-HSA-189442
Species:
Homo sapiens
Compartment:
mitochondrial matrix
The committed step for porphyrin synthesis is the formation of 5-aminolevulinate (ALA) by condensation of glycine (from the general amino acid pool) and succinyl-CoA (from the TCA cycle), in the mitochondrial matrix. The reaction is catalyzed by two different ALA synthases, one expressed ubiquitously (ALAS1) and the other only expressed in erythroid precursors (ALAS2). Both enzymes are expressed as homodimers and require pyridoxal 5-phosphate as a cofactor.
No disease-causing mutations of ALAS1 have been recognised in humans. Mutations in ALAS2 cause X-linked sideroblastic anaemia (XLSA), characterised by a microcytic hypochromic anaemia.
No disease-causing mutations of ALAS1 have been recognised in humans. Mutations in ALAS2 cause X-linked sideroblastic anaemia (XLSA), characterised by a microcytic hypochromic anaemia.
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