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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Other
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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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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| 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; <2% activity. |
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| Gene |
NEU1 |
| Chromosomal Location |
6p21.33 |
| Allelic Variant 1 |
; NEURAMINIDASE DEFICIENCY |
| Identified Mutation |
c.4_7dupACTG, p.Gly3Thrfs*24 |
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| Gene |
NEU1 |
| Chromosomal Location |
6p21.33 |
| Allelic Variant 2 |
; NEURAMINIDASE DEFICIENCY |
| Identified Mutation |
c.4_7dupACTG, p.Gly3Thrfs*24 |
| Remarks |
Hepatosplenomegaly; ascites; macrocephaly; developmental delay; hyperpigment on anterior abdominal wall; osteoporosis with flaring of distal ends of long bones; cortical atrophy; abnormal eye findings; <2% of control fibroblast alpha-neuraminidase activity; P6 at CCR |
| 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 |
| dbSNP |
dbSNP ID: 18072 |
| 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 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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