Gene: NEU1

Alternate names for this Gene: NANH|NEU|SIAL1

Gene Summary: The protein encoded by this gene is a lysosomal enzyme that cleaves terminal sialic acid residues from substrates such as glycoproteins and glycolipids. In the lysosome, this enzyme is part of a heterotrimeric complex together with beta-galactosidase and cathepsin A (the latter is also referred to as 'protective protein'). Mutations in this gene can lead to sialidosis, a lysosomal storage disease that can be type 1 (cherry red spot-myoclonus syndrome or normosomatic type), which is late-onset, or type 2 (the dysmorphic type), which occurs at an earlier age with increased severity.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.33

Description of this Gene: neuraminidase 1

Type of Gene: protein-coding

rs622076 in NEU1 gene and Glomerular Filtration Rate PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs67682613 in NEU1 gene and Schizophrenia PMID 26198764 2015 Genome-wide association study of schizophrenia in Ashkenazi Jews.

rs104893979 in NEU1 gene and Sialidase deficiency PMID 14695530 2004 Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression.

PMID 25153125 2014 In silico identification of new putative pathogenic variants in the NEU1 sialidase gene affecting enzyme function and subcellular localization.

PMID 9054950 1997 Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis.

PMID 11279074 2001 Mutations in sialidosis impair sialidase binding to the lysosomal multienzyme complex.

PMID 8985184 1996 Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis.

PMID 11063730 2000 Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis.

PMID 11829139 2002 Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes.

PMID 10767332 2000 Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex.

PMID 10944856 2000 Molecular and structural studies of Japanese patients with sialidosis type 1.

rs13118 in NEU1 gene and Vitiligo PMID 20526339 2010 Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC.