Synthetic peptide directed towards the N terminal region of human ALAS2
Biochem/physiol Actions
ALAS2 specifies an erythroid-specific mitochondrially located enzyme. The protein catalyzes the first step in the heme biosynthetic pathway. Defects in its gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified.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.
Sequence
Synthetic peptide located within the following region: CPILATQGPNCSQIHLKATKAGGDSPSWAKGHCPFMLSELQDGKSKIVQK
Physical form
Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.
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Congenital erythropoietic porphyria (CEP) is an inborn error of heme synthesis resulting from uroporphyrinogen III synthase (UROS) deficiency and the accumulation of nonphysiological porphyrin isomer I metabolites. Clinical features are heterogeneous among patients with CEP but usually combine skin photosensitivity
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