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Protein Coding Gene : Neu1 neuraminidase 1
Primary Identifier  MGI:97305 Organism  mouse, laboratory
Chromosome  17 NCBI Gene Number  18010
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0)

Enables exo-alpha-sialidase activity. Predicted to be involved in several processes, including ganglioside catabolic process; positive regulation of neuron projection development; and regulation of myoblast proliferation. Located in lysosome. Is expressed in alimentary system; brain; intestine; midgut; and midgut loop. Used to study glycoproteinosis. Human ortholog(s) of this gene implicated in mucolipidosis. Orthologous to human NEU1 (neuraminidase 1).
PHENOTYPE: Nullizygous mice develop features of early-onset lysosomal storage disease (sialidosis), including severe nephropathy, edema, splenomegaly, kyphosis and oligosacchariduria, and display myoclonus, lordosis, extramedullary hematopoiesis, dyspnea, weight loss, gait defects, tremors and premature death. [provided by MGI curators]
  • synonyms:
  • Bat7,
  • MGD-MRK-12819,
  • MGD-MRK-12114,
  • AA407316,
  • G9,
  • MGD-MRK-1504,
  • sialidase 1,
  • alpha glucosidase processing,
  • expressed sequence AA407268,
  • Neu-1,
  • MGD-MRK-1182,
  • mannosidase processing 2,
  • HLA-B-associated transcript 7,
  • MGI:2146738,
  • acid phosphatase, liver,
  • MGI:88131,
  • AA407268,
  • Map-2,
  • lysosomal sialidase,
  • expressed sequence AA407316,
  • Neu1,
  • Apl,
  • MGD-MRK-1512,
  • neuraminidase 1,
  • MGD-MRK-12820,
  • MGD-MRK-1358,
  • Bat-7,
  • Aglp,
  • MGI:2146740
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