DISEASES

Disease-gene associations mined from literature

Literature associating NEU4 and early infantile epileptic encephalopathy 15

NEU4 [ENSP00000320318]

N-acetyl-alpha-neuraminidase 4; May function in lysosomal catabolism of sialylated glycoconjugates. Has sialidase activity towards synthetic substrates, such as 2'-(4-methylumbelliferyl)-alpha-D-N- acetylneuraminic acid (4-MU-NANA or 4MU-NeuAc). Has a broad substrate specificity being active on glycoproteins, oligosaccharides and sialylated glycolipids.

Synonyms:  NEU4,  NEU4p,  hNEU4,  C9J295,  C9JEA3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM