NP_001121699.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform 1
NCBI Official Synonym Full Names
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
NCBI Protein Information
bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
UniProt Protein Name
Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
UniProt Synonym Protein Names
UDP-GlcNAc-2-epimerase/ManAc kinaseIncluding the following 2 domains:UDP-N-acetylglucosamine 2-epimerase (hydrolyzing) (EC:3.2.1.183)Alternative name(s):UDP-GlcNAc-2-epimerase; Uridine diphosphate-N-acetylglucosamine-2-epimerase
UniProt Synonym Gene Names
NCBI Summary for GNE
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]
UniProt Comments for GNE
Regulates and initiates biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. Plays an essential role in early development (). Required for normal sialylation in hematopoietic cells. Sialylation is implicated in cell adhesion, signal transduction, tumorigenicity and metastatic behavior of malignant cells.
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Products associated with anti-GNE antibody
Pathways associated with anti-GNE antibody
Diseases associated with anti-GNE antibody
Organs/Tissues associated with anti-GNE antibody
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