订购信息
货号 | 种属 | 载体 | 描述 | 价格 | 周期 |
HO000543 | Human ORF | pMD19-T Simple Vector | Homo sapiens sphingomyelin phosphodiesterase 1 (SMPD1)(一个氨基酸突变), transcript variant 1, mRNANM_000543 | 1500 | 1 周 |
基本信息
基因名称: | SMPD1 |
NCBI序列号: | NM_000543 |
基因描述: | Homo sapiens sphingomyelin phosphodiesterase 1 (SMPD1)(一个氨基酸突变), transcript variant 1, mRNA NM_000543 |
基因种属: | Human |
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载体信息
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.