Description:
MANNOSIDOSIS, ALPHA B, LYSOSOMAL
MANNOSIDASE, ALPHA, CLASS 2B, MEMBER 1; MAN2B1
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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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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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| Passage Frozen |
16 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| alpha-mannosidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.24; 8% activity. |
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| alpha-mannosidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.24; 1% activity. |
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| Gene |
MAN2B1 |
| Chromosomal Location |
19cen-q12 |
| Allelic Variant 1 |
609458.0005; MANNOSIDOSIS, ALPHA B, LYSOSOMAL |
| Identified Mutation |
PRO356ARG; In a fibroblast cell line (GM04518) from a 2-year-old girl with type I alpha-mannosidosis, Gotoda et al. [Am. J. Hum. Genet. 63: 1015-1024 (1998)] found a pro356-to-arg (P356R) missense mutation in homozygous state in exon 8 of the MAN2B1 gene. The patient showed severe growth failure with hypotonia, psychomotor retardation, and hepatosplenomegaly. |
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| Gene |
MAN2B1 |
| Chromosomal Location |
19cen-q12 |
| Allelic Variant 2 |
609458.0005; MANNOSIDOSIS, ALPHA B, LYSOSOMAL |
| Identified Mutation |
PRO356ARG; In a fibroblast cell line (GM04518) from a 2-year-old girl with type I alpha-mannosidosis, Gotoda et al. [Am. J. Hum. Genet. 63: 1015-1024 (1998)] found a pro356-to-arg (P356R) missense mutation in homozygous state in exon 8 of the MAN2B1 gene. The patient showed severe growth failure with hypotonia, psychomotor retardation, and hepatosplenomegaly. |
| Remarks |
Severe growth failure; hypotonia; psychomotor retardation; mild hepatosplenomegaly; x-ray findings compatible with Hurler's syndrome; 8% of control fibroblast and 1% of control leukocyte acid-alpha-mannosidase activity; the donor subject is homozygous for a C>G transversion at nucleotide 1067 in exon 8 of the MAN2B1 gene (1067C>G) resulting in the substitution of arginine for proline at codon 356 [Pro356Arg (P356R)] |
| Ong DS, Wang YJ, Tan YL, Yates JR, Mu TW, Kelly JW, FKBP10 Depletion Enhances Glucocerebrosidase Proteostasis in Gaucher Disease Fibroblasts Chemistry & biology: 2012 |
| PubMed ID: 23434032 |
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| Berg T, Riise HM, Hansen GM, Malm D, Tranebjaerg L, Tollersrud OK, Nilssen O, Spectrum of mutations in alpha-mannosidosis. Am J Hum Genet64(1):77-88 1999 |
| PubMed ID: 9915946 |
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| Gotoda Y, Wakamatsu N, Kawai H, Nishida Y, Matsumoto T, Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB)
in severe and mild forms of alpha-mannosidosis. Am J Hum Genet63(4):1015-24 1998 |
| PubMed ID: 9758606 |
| dbSNP |
dbSNP ID: 21402 |
| Gene Cards |
MAN2B1 |
| Gene Ontology |
GO:0004559 alpha-mannosidase activity |
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GO:0005764 lysosome |
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GO:0005975 carbohydrate metabolism |
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GO:0006464 protein modification |
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GO:0006517 protein deglycosylation |
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GO:0016798 hydrolase activity, acting on glycosyl bonds |
| NCBI Gene |
Gene ID:4125 |
| NCBI GTR |
248500 MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA |
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609458 MANNOSIDASE, ALPHA, CLASS 2B, MEMBER 1; MAN2B1 |
| OMIM |
248500 MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA |
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609458 MANNOSIDASE, ALPHA, CLASS 2B, MEMBER 1; MAN2B1 |
| Omim Description |
ALPHA-MANNOSIDASE B DEFICIENCYMANNOSIDASE, ALPHA B, LYSOSOMAL, INCLUDED; MANB, INCLUDED |
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ALPHA-MANNOSIDOSIS |
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LYSOSOMAL ALPHA-D-MANNOSIDASE DEFICIENCY |
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MANNOSIDOSIS, ALPHA B, LYSOSOMAL |
| Passage Frozen |
16 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| 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 |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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