DISEASES

Disease-gene associations mined from literature

Literature associating GNE and Bardet-Biedl syndrome 2

GNE [ENSP00000379839]

Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase; Regulates and initiates biosynthesis of N- acetylneuraminic acid (NeuAc), a precursor of sialic acids. Plays an essential role in early development (By similarity). Required for normal sialylation in hematopoietic cells. Sialylation is implicated in cell adhesion, signal transduction, tumorigenicity and metastatic behavior of malignant cells; In the C-terminal section; belongs to the ROK (NagC/XylR) family.

Synonyms:  GNE,  Q9Y223,  GLCNE,  Q9Y223p,  hQ9Y223 ...

Linkouts:  STRING  Pharos  UniProt  OMIM