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Peptide sequence: VRLLKGEEGQ ALRRAHQRNV KHMRQLLMDR GLPVIPCPSH IIPIRVGNAA
Sequence homology: Cow: 100%; Dog: 100%; Guinea Pig: 100%; Horse: 100%; Human: 100%; Mouse: 100%; Rabbit: 100%; Rat: 100%; Zebrafish: 86%
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