Anti-GNE antibody [EPR15058]

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.

Activity summary

GNE also called glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase is a bifunctional enzyme with a mass of approximately 82 kDa. This enzyme catalyzes the first two steps in sialic acid biosynthesis. GNE expression occurs in many tissues highest in liver and kidney and also in heart muscle and brain. Its bifunctional nature arises from two domain activities that facilitate the essential conversion of UDP-N-acetylglucosamine to N-acetylneuraminic acid a precursor for sialic acids.

Biological function summary

Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase acts as an important enzyme in sialic acid production acting alone and not part of a larger enzymatic complex. Sialic acids are terminal sugars on glycoproteins and glycolipids influencing cell-cell interaction signaling and stability. The enzyme's function affects cell surface structures impacting processes like cell migration and immune response.

Pathways

The enzyme GNE plays an important role in the sialylation pathway affecting various biological systems. This pathway involves the modification of glycoproteins and glycolipids critical for maintaining cellular communication. UDP-N-acetylglucosamine and N-acetylneuraminic acid are intermediates in pathways that also involve proteins like CMP-sialic acid transporter which mediates the transport of sialic acids into the Golgi apparatus for post-translational modification processes.

Associated diseases and disorders

Defects in GNE are linked to conditions such as hereditary inclusion body myopathy (HIBM) an autosomal recessive muscle-wasting disorder. Another associated condition is sialuria a rare metabolic disorder tied to excessive levels of sialic acid. In HIBM mutations affect the enzyme’s kinase activity leading to reduced sialylation of glycoproteins. Research shows a relationship between GNE and proteins like sialin whose function as a transporter can impact the pathological manifestation of these disorders.