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Proteintech
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Immunogen sequence: VELEQELAEL HQKDSALLFS SCFVANDSTL FTLAKILPGC EIYSDAGNHA SMIQGIRNSG AAKFVFRHND PDHLKKLLEK SNPKIPKIVA FETVHSMDGA ICPLEELCDV SHQYGALTFV DEVHAVGLYG SRGAGIGERD GIMHKIDIIS GTLGKAFGCV GGYIASTRDL VDMVRSYAAG FIFTTSLPPM VLSGALESVR LLKGEEGQAL RRAHQRNVKH MRQLLMDRGL PVIPCPSHII PIRVGNAALN SKLCDLLLSK HGIYVQAINY PTVPRGEELL RLAPSPHHSP QMMEDFVEKL LLAWTAVGLP LQDVSVAACN FCRRPVHFEL MSEWERSYFG NMGPQYVTTY A
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: 5-aminolevulinate synthase, erythroid-specific, mitochondrial; 5-aminolevulinic acid synthase 2; ALAS-E; aminolevulinate, delta-, synthase 2; Delta-ALA synthase 2; delta-ALA synthetase; Delta-aminolevulinate synthase 2; PRO2399; RP5-884M20.1
基因别名: ALAS-E; ALAS2; ALASE; ANH1; ASB; SIDBA1; XLDPP; XLEPP; XLSA
UniProt ID: (Human) P22557
Entrez Gene ID: (Human) 212