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Proteintech
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Immunogen sequence: VELEQELAE LHQKDSALLF SSCFVANDST LFTLAKILPG CEIYSDAGNH ASMIQGIRNS GAAKFVFRHN DPDHLKKLLE KSNPKIPKIV AFETVHSMDG AICPLEELCD VSHQYGALTF VDEVHAVGLY GSRGAGIGER DGIMHKIDII SGTLGKAFGC VGGYIASTRD LVDMVRSYAA GFIFTTSLPP MVLSGALESV RLLKGEEGQA LRRAHQRNVK HMRQLLMDRG LPVIPCPSHI IPIRVGNAAL NSKLCDLLLS KHGIYVQAIN YPTVPRGEEL LRLAPSPHHS PQMMEDFVEK LLLAWTAVGL PLQDVSVAAC NFCRRPVHFE LMSEWERSYF GNMGPQYVTT YA (224-574 aa encoded by BC030230)
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.
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