人 SMPD1 (NM_001007593) cDNA克隆

基本信息

Accession: NM_001007593
基因名称: SMPD1
基因别名: ASM; NPD; ASMASE
基因描述: Homo sapiens sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1), transcript variant 2, mRNA.
种属: Human
CDS区长度: 1893 (查看编码区序列)
翻译后氨基酸长度: 630 (查看氨基酸序列)
Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded protein (isoform 2) is one amino acid shorter than isoform 1.

订购信息

产品编号 产品名称 载体 规格 价格
G116120 人 SMPD1 (NM_001007593) 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 SMPD1 (NM_000543) cDNA克隆 transcript variant 1
人 SMPD1 (NM_001007593) cDNA克隆 transcript variant 2

基因简介

The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity. Defects in this gene are a cause of Niemann-Pick disease type A (NPA) and Niemann-Pick disease type B (NPB). Multiple transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010]

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