人 GALC (NM_001201402) cDNA克隆

基本信息

Accession: NM_001201402
基因名称: GALC
基因描述: Homo sapiens galactosylceramidase (GALC), transcript variant 4, mRNA.
种属: Human
CDS区长度: 1980 (查看编码区序列)
翻译后氨基酸长度: 659 (查看氨基酸序列)
Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (d) has a distinct N-terminus and is shorter than isoform a.

订购信息

产品编号 产品名称 载体 规格 价格
G143180 人 GALC (NM_001201402) 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 GALC (NM_000153) cDNA克隆 transcript variant 1
人 GALC (NM_001201401) cDNA克隆 transcript variant 3
人 GALC (NM_001201402) cDNA克隆 transcript variant 4

基因简介

This gene encodes a lysosomal protein which hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Mutations in this gene have been associated with Krabbe disease, also known as globoid cell leukodystrophy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

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