人 SMPD1 (NM_000543) cDNA克隆

基本信息

Accession: NM_000543
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 1, mRNA.
种属: Human
CDS区长度: 1896 (查看编码区序列)
翻译后氨基酸长度: 631 (查看氨基酸序列)
Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

订购信息

产品编号 产品名称 载体 规格 价格
G116119 人 SMPD1 (NM_000543) 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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