Description:
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I
Repository
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NIGMS Human Genetic Cell Repository
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Subcollection |
Heritable Diseases Lysosomal Storage Diseases |
Class |
Disorders of Lipid Metabolism |
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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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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PDL at Freeze |
6.56 |
Passage Frozen |
11 |
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beta-galactosidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.23; <1% activity. |
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IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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Remarks |
Less than 1% of normal beta-galactosidase and normal sialidase activity; short stature; developmental delay; cherry-red spots; both parents have less than normal beta-galactosidase activity |
Ahern-Rindell AJ, Murnane RD, Prieur DJ, Interspecific genetic complementation analysis of human and sheep fibroblasts with beta-galactosidase deficiency. Somat Cell Mol Genet15:525-33 1989 |
PubMed ID: 2512653 |
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Kobayashi T, Shinnoh N, Kuroiwa Y, Incorporation and degradation of GM1 ganglioside and asialoGM1 ganglioside in cultured fibroblasts from normal individuals and patients with beta-galactosidase deficiency. Biochim Biophys Acta875:115-21 1986 |
PubMed ID: 3079639 |
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Fedde KN, Sly WS, Ricin-binding properties of acid hydrolases from isolated lysosomes implies prior processing by terminal transferases of the trans-Golgi apparatus. Biochem Biophys Res Commun133:614-20 1985 |
PubMed ID: 2935147 |
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Kobayashi T, Shinnoh N, Goto I, Kuroiwa Y, Hydrolysis of galactosylceramide is catalyzed by two genetically distinct acid beta-galactosidases. J Biol Chem260:14982-7 1985 |
PubMed ID: 3934152 |
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Kobayashi T, Shinnoh N, Goto I, Kuroiwa Y, Okawauchi M, Sugihara G, Tanaka M, Galactosylceramide- and lactosylceramide-loading studies in cultured fibroblasts from normal individuals and patients with globoid cell leukodystrophy (Krabbe's disease) and GM1-gangliosidosis. Biochim Biophys Acta835:456-64 1985 |
PubMed ID: 3926002 |
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Mueller OT, Wenger DA, Mucolipidosis I: studies of sialidase activity and a prenatal diagnosis. Clin Chim Acta109:313-24 1981 |
PubMed ID: 7226521 |
dbSNP |
dbSNP ID: 18463 |
Gene Ontology |
GO:0004565 beta-galactosidase activity |
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GO:0005764 lysosome |
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GO:0005975 carbohydrate metabolism |
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GO:0009341 beta-galactosidase complex |
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GO:0016798 hydrolase activity, acting on glycosyl bonds |
NCBI Gene |
Gene ID:2720 |
NCBI GTR |
230500 GM1-GANGLIOSIDOSIS, TYPE I |
OMIM |
230500 GM1-GANGLIOSIDOSIS, TYPE I |
Omim Description |
BETA-GALACTOSIDASE-1 DEFICIENCY |
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GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I |
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GLB1 DEFICIENCYGALACTOSIDASE, BETA-1; GLB1, INCLUDED |
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MORQUIO DISEASE, TYPE B, INCLUDED |
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MPS IVB, INCLUDED |
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MUCOPOLYSACCHARIDOSIS TYPE IVB, INCLUDED |
Passage Frozen |
11 |
Split Ratio |
1:4 |
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 |
15% fetal bovine serum Not inactivated |
Substrate |
None specified |
Supplement |
- |
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