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]

Description

Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase

Tissue specificity

Group enriched (intestine, liver, salivary gland)

Subcell location

Cytosol

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

9 (36214441 - 36277042)

Ensembl ID

ENSG00000159921  (ver. 103.38)

Orthologs

Mouse Gne: ENSMUSG00000028479

UniProt

Q9Y223

neXtProt

NX_Q9Y223

Human splice variants
Mouse splice variants

Protein structure