Description:
NEURAMINIDASE DEFICIENCY
NEURAMINIDASE 1; NEU1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Carbohydrate Metabolism |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Biochemical characterization after cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| PDL at Freeze |
4.99 |
| Passage Frozen |
7 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| exo-alpha-sialidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.18; <1% activity. |
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| Gene |
NEU1 |
| Chromosomal Location |
6p21.33 |
| Allelic Variant 1 |
608272.0004; NEURAMINIDASE DEFICIENCY |
| Identified Mutation |
p.Phe260Tyr |
| |
| Gene |
NEU1 |
| Chromosomal Location |
6p21.33 |
| Allelic Variant 2 |
; NEURAMINIDASE DEFICIENCY |
| Identified Mutation |
p.Leu363Pro |
| Remarks |
Clinically affected; normal mental development; less than 1% of normal neuraminidase activity; coarse facial features; hepatosplenomegaly; dysostosis multiplex; unaffected mother (GM01719) and father (GM01720) also in repository.
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| Bardor M, Nguyen DH, Diaz S, Varki A, Mechanism of uptake and incorporation of the non-human sialic acid N-glycolylneuraminic acid into human cells The Journal of biological chemistry280:4228-37 2004 |
| PubMed ID: 15557321 |
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| Pshezhetsky AV, Richard C, Michaud L, Igdoura S, Wang S, Elsliger MA, Qu J, Leclerc D, Gravel R, Dallaire L, Potier M, Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis. Nat Genet15:316-20 1997 |
| PubMed ID: 9054950 |
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| Mueller OT, Henry WM, Haley LL, Byers MG, Eddy RL, Shows TB, Sialidosis and galactosialidosis: chromosomal assignment of two genes associated with neuraminidase-deficiency disorders. Proc Natl Acad Sci U S A83:1817-21 1986 |
| PubMed ID: 3081902 |
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| Andria G, Sly WS, Intermediate golgi alpha-D-mannosidosis and mucolipidosis II and III. Pediatr Res15:70-3 1981 |
| PubMed ID: 7208171 |
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| Butterworth J, Priestman D, Susceptibility to neuraminidase of alpha-L-fucosidase and N-acetyl-beta- D-glucosaminidase of cystic fibrosis, I-cell and neuraminidase- deficient fibroblasts. Clin Chim Acta110:319-26 1981 |
| PubMed ID: 7226536 |
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| Honey NK, Miller AL, Shows TB, The mucolipidoses: identification by abnormal electrophoretic patterns of lysosomal hydrolases. Am J Med Genet9:239-53 1981 |
| PubMed ID: 7282783 |
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| Potier M, Mameli L, Belisle M, Dallaire L, Melancon SB, Fluorometric assay of neuraminidase with a sodium (4-methylumbelliferyl- alpha-D-N-acetylneuraminate) substrate. Anal Biochem94:287-96 1979 |
| PubMed ID: 464297 |
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| Kelly TE, Graetz G, Isolated acid neuraminidase deficiency: a distinct lysosomal storage disease. Am J Med Genet1:31-46 1977 |
| PubMed ID: 610425 |
| dbSNP |
dbSNP ID: 20262 |
| Gene Cards |
NEU |
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NEU1 |
| Gene Ontology |
GO:0004308 exo-alpha-sialidase activity |
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GO:0005764 lysosome |
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GO:0005975 carbohydrate metabolism |
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GO:0016798 hydrolase activity, acting on glycosyl bonds |
| NCBI Gene |
Gene ID:4758 |
| NCBI GTR |
256550 NEURAMINIDASE DEFICIENCY |
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608272 NEURAMINIDASE 1; NEU1 |
| OMIM |
256550 NEURAMINIDASE DEFICIENCY |
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608272 NEURAMINIDASE 1; NEU1 |
| Omim Description |
CHERRY RED SPOT AND MYOCLONUS SYNDROME |
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GLYCOPROTEIN NEURAMINIDASE, DEFICIENCY OF |
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LIPOMUCOPOLYSACCHARIDOSIS, INCLUDED |
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ML I, INCLUDED |
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MUCOLIPIDOSIS I, INCLUDED |
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MYOCLONUS AND CHERRY RED SPOT SYNDROME |
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NEU, DEFICIENCY OF |
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NEU1, DEFICIENCY OFNEURAMINIDASE, INCLUDED; NEU, INCLUDED |
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NEUG, DEFICIENCY OF |
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NEURAMINIDASE 1, DEFICIENCY OF |
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NEURAMINIDASE DEFICIENCY |
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SIALIDASE DEFICIENCY |
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SIALIDOSES, TYPES I AND II |
| Passage Frozen |
7 |
| Split Ratio |
1:6 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Ham's F12 Medium/Dulbecco Modified Eagles Medium, 1:1 mixture with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
Commercially-treated plastic |
| Supplement |
Epidermal Growth Factor 1% |
| Supplement |
Non-Essential Amino Acids 1% |
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