ALAS1
Description
The ALAS1 (5'-aminolevulinate synthase 1) is a protein-coding gene located on chromosome 3.
ALAS1 is a protein encoded by the ALAS1 gene in humans. It is an aminolevulinate synthase that catalyzes the first and rate-limiting step in the heme biosynthetic pathway, converting glycine and succinyl-CoA into delta-aminolevulinic acid. This mitochondrial enzyme is essential for early embryogenesis, as mice lacking the gene exhibit embryonic lethality. There are two tissue-specific isozymes of ALAS: ALAS1, the housekeeping enzyme, and ALAS2, the erythroid tissue-specific enzyme.
ALAS1 catalyzes the condensation of succinyl-CoA and glycine into aminolevulinic acid (ALA) with the assistance of pyridoxal 5'-phosphate (PLP). This reaction produces CoA and CO2 as byproducts.
ALAS1 is also known as ALAS, ALAS-H, ALAS3, ALASH, MIG4.
Associated Diseases
- acute intermittent porphyria
- hereditary coproporphyria
- porphyria due to ALA dehydratase deficiency
- bipolar disorder
- type 2 diabetes mellitus
- retinitis pigmentosa
- snowflake vitreoretinal degeneration
- Coats disease
- upper limb defect-eye and ear abnormalities syndrome
- cataract 50 with or without glaucoma
