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- accession：NM_001190388
- 基因别名：GNE
- 基因描述：Homo sapiens glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE), transcript variant 3, mRNA.
- 载体：现货载体
- CDS区长度：2154
- 翻译后氨基酸长度：717
- TranscriptVariant：This variant (3) lacks a 5' coding segment, which results in the use of an upstream alternate start codon, compared to variant 1. The predicted protein (isoform 3) has a shorter and distinct N-terminus when it is compared to isoform 1. This variant has been called GNE3 in the scientific literature.
- 基因简介：The protein encoded by this gene is a bifunctional enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. It is a rate-limiting enzyme in the sialic acid biosynthetic pathway. Sialic acid modification of cell surface molecules is crucial for their function in many biologic processes, including cell adhesion and signal transduction. Differential sialylation of cell surface molecules is also implicated in the tumorigenicity and metastatic behavior of malignant cells. Mutations in this gene are associated with sialuria, autosomal recessive inclusion body myopathy, and Nonaka myopathy. Alternative splicing of this gene results in transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
- 规格：10ul 质粒
CDS区参考序列： 点击查看序列翻译后氨基酸参数序列： 点击查看序列
