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FIGURE: 1 / 1
Positive test controls include: 293T, Mouse liver, Mouse spleen, Mouse lung. The target is usually found in the following locations: Mitochondrion matrix.
Immunogen sequence: VKTHQFLFGI GRCPILATQG PNCSQIHLKA TKAGGDSPSW AKGHCPFMLS ELQDGKSKIV QKAAPEVQED VKAFKTGNYV FSYDQFFRDK IMEKKQDHTY RVFKTVNRWA DAYPFAQHFS EASVASKDVS VWCSNDYLGM SRHPQVLQAT QETLQRHGAG AGGTRNISGT SKFHVELEQE LAELHQKDSA LLFSSCFVAN DSTLFTLAKI LPGCEIYSDA GNHASMIQGI RNSGAAKFVF RHNDPDHLKK LLEKSNPKIP KIVAFETVHS M
ALAS2 specifies an erythroid-specific mitochondrially located enzyme. It catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia.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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: 5-aminolevulinate synthase, erythroid-specific, mitochondrial; 5-aminolevulinic acid synthase 2; ALAS-E; Aminolevulinate synthase 2, delta; aminolevulinate, delta-, synthase 2; aminolevulinic acid synthase 2, erythroid; Delta-ALA synthase 2; delta-ALA synthetase; Delta-aminolevulinate synthase 2; erythroid-specific ALAS; erythroid-specific delta-aminolevulinate synthase ALAS-E; PRO2399; RP5-884M20.1
Gene Aliases: ALAS; Alas-2; ALAS-E; ALAS2; ALASE; ANH1; ASB; SIDBA1; XLDPP; XLEPP; XLSA
UniProt ID: (Human) P22557, (Rat) Q63147, (Mouse) P08680
Entrez Gene ID: (Human) 212, (Rat) 25748, (Mouse) 11656
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