人 ALAS2 (NM_001037968) cDNA克隆

基本信息

Accession: NM_001037968
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 3, mRNA.
种属: Human
CDS区长度: 1725 (查看编码区序列)
翻译后氨基酸长度: 574 (查看氨基酸序列)
Transcript Variant: This variant (3) differs in the 5' UTR, has an additional 5' exon resulting in an alternate start codon, and lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (c) is shorter but has a longer and distinct N-terminus, compared to isoform a.

订购信息

产品编号 产品名称 载体 规格 价格
G113613 人 ALAS2 (NM_001037968) cDNA克隆 pDONR223 2ug质粒 点击询价

载体信息

pDONR223载体图谱

相关转录本

人 ALAS2 (NM_000032) cDNA克隆 transcript variant 1
人 ALAS2 (NM_001037967) cDNA克隆 transcript variant 2
人 ALAS2 (NM_001037968) cDNA克隆 transcript variant 3

基因简介

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]

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