人 ASAH1 (NM_177924) cDNA克隆

基本信息

Accession: NM_177924
基因名称: ASAH1
基因别名: AC; PHP; ASAH; PHP32; ACDase; SMAPME
基因描述: Homo sapiens N-acylsphingosine amidohydrolase (acid ceramidase) 1 (ASAH1), transcript variant 1, mRNA.
种属: Human
CDS区长度: 1188 (查看编码区序列)
翻译后氨基酸长度: 395 (查看氨基酸序列)
Transcript Variant: This variant (1) differs in the 5' UTR and coding sequence compared to variant 2. The resulting isoform (a) has a shorter and distinct N-terminus compared to isoform b.

订购信息

产品编号 产品名称 载体 规格 价格
G103905 人 ASAH1 (NM_177924) 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 ASAH1 (NM_177924) cDNA克隆 transcript variant 1
人 ASAH1 (NM_004315) cDNA克隆 transcript variant 2
人 ASAH1 (NM_001127505) cDNA克隆 transcript variant 3

基因简介

This gene encodes a heterodimeric protein consisting of a nonglycosylated alpha subunit and a glycosylated beta subunit that is cleaved to the mature enzyme posttranslationally. The encoded protein catalyzes the synthesis and degradation of ceramide into sphingosine and fatty acid. Mutations in this gene have been associated with a lysosomal storage disorder known as Farber disease. Multiple transcript variants encoding several distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

相关产品