人 ALAS2 (NM_000032) cDNA克隆

Accession: NM_000032
基因名称: ALAS2
基因别名: ASB; ANH1; XLSA; ALASE; XLDPP; XLEPP; ALAS-E
基因描述: Homo sapiens aminolevulinate, delta-, synthase 2 (ALAS2), transcript variant 1, mRNA.
种属: Human
CDS区长度: 1764 (查看编码区序列)
翻译后氨基酸长度: 587 (查看氨基酸序列)
Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
产品编号 产品名称 载体 规格 价格
G113611 人 ALAS2 (NM_000032) cDNA克隆 pDONR223 2ug质粒 点击询价

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. [provided by RefSeq, Jul 2008]