ALAS2 (NP_000023, 1 a.a. ~ 100 a.a) partial recombinant protein with GST tag. The sequence is MVTAAMLLQCCPVLARGPTSLLGKVVKTHQFLFGIGRCPILATQGPNCSQIHLKATKAGG DSPSWAKGHCPFMLSELQDGKSKIVQKAAPEVQEDVKAFK
The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified.
Pathway
Glycine, serine and threonine metabolism; Heme Biosynthesis; Metabolism; Porphyrin and chlorophyll metabolism
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