Recombinant Human Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE)

Uniprot Id

Q9Y223

Target Species

Human

Target Name

GNE

Target Full Name

Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase

Target Function

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.

Target Involvement

Sialuria (SIALURIA); Nonaka myopathy (NM)

Target Subcellular Location

Cytoplasm.

Target Protein Families

UDP-N-acetylglucosamine 2-epimerase family; ROK (NagC/XylR) family

Target Tissue Specificity

Highest expression in liver and placenta. Also found in heart, brain, lung, kidney, skeletal muscle and pancreas. Isoform 1 is expressed in heart, brain, kidney, liver, placenta, lung, spleen, pancreas, skeletal muscle and colon. Isoform 2 is expressed ma

Target Research Area

Cardiovascular

Target Synonyms

2310066H07Rik; Bifunctional UDP N acetylglucosamine 2 epimerase/N acetylmannosamine kinase; DMRV; GLCNE_HUMAN; Glucosamine (UDP N acetyl) 2 epimerase/N acetylmannosamine kinase; GNE; IBM2; ManAc kinase; N acylmannosamine kinase; N-acetylmannosamine kinase; NM; RP23-209M8.6; Uae1; UDP GlcNAc 2 epimerase; UDP GlcNAc 2 epimerase/ManAc kinase; UDP N acetylglucosamine 2 epimerase/N acetylmannosamine kinase; UDP-GlcNAc-2-epimerase; UDP-GlcNAc-2-epimerase/ManAc kinase; Uridine diphosphate N acetylglucosamine 2 epimerase; Uridine diphosphate-N-acetylglucosamine-2-epimerase

Target Background

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.