NA02051
DNA from Fibroblast
Description:
MANNOSIDOSIS, ALPHA B, LYSOSOMAL
MANNOSIDASE, ALPHA, CLASS 2B, MEMBER 1; MAN2B1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Carbohydrate Metabolism |
| Alternate IDs |
GM17334 [MANNOSIDOSIS, ALPHA B, LYSOSOMAL] |
| Quantity |
0.050mg |
| Quantitation Method |
Please see our FAQ |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Race
|
White
|
|
Ethnicity
|
ARABIAN
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| alpha-mannosidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.24; 20% activity. |
| |
| Gene |
MAN2B1 |
| Chromosomal Location |
19cen-q12 |
| Allelic Variant 1 |
609458.0001; MANNOSIDOSIS, ALPHA B, LYSOSOMAL |
| Identified Mutation |
HIS71LEU |
| |
| Gene |
MAN2B1 |
| Chromosomal Location |
19cen-q12 |
| Allelic Variant 2 |
609458.0001; MANNOSIDOSIS, ALPHA B, LYSOSOMAL |
| Identified Mutation |
HIS71LEU |
| Remarks |
Variant; Arab; approximately 20% of normal alpha-mannosidase activity; similarly affected brother; donor subject is homozygous for an A>T transversion at nucleotide 212 in exon 2 of the MAN2B1 gene ( 212A>T) resulting in the substitution of leucine for histidine at codon 71 [His71Leu (H71L)] |
| Xu M, Liu K, Swaroop M, Sun W, Dehdashti SJ, McKew JC, Zheng W, A phenotypic compound screening assay for lysosomal storage diseases Journal of biomolecular screening19:168-75 2013 |
| PubMed ID: 23983233 |
| |
| 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 |
| |
| Nilssen O, Berg T, Riise HM, Ramachandran U, Evjen G, Hansen GM, Malm D, Tranebjaerg L, Tollersrud OK, alpha-Mannosidosis: functional cloning of the lysosomal alpha-mannosidase cDNA and identification of a mutation in two affected siblings. Hum Mol Genet6(5):717-26 1997 |
| PubMed ID: 9158146 |
| dbSNP |
dbSNP ID: 10478 |
| Gene Cards |
MAN2B1 |
| Gene Ontology |
GO:0004559 alpha-mannosidase activity |
|
GO:0005764 lysosome |
|
GO:0005975 carbohydrate metabolism |
|
GO:0006464 protein modification |
|
GO:0006517 protein deglycosylation |
|
GO:0016798 hydrolase activity, acting on glycosyl bonds |
| NCBI Gene |
Gene ID:4125 |
| NCBI GTR |
248500 MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA |
|
609458 MANNOSIDASE, ALPHA, CLASS 2B, MEMBER 1; MAN2B1 |
| OMIM |
248500 MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA |
|
609458 MANNOSIDASE, ALPHA, CLASS 2B, MEMBER 1; MAN2B1 |
| Omim Description |
ALPHA-MANNOSIDASE B DEFICIENCYMANNOSIDASE, ALPHA B, LYSOSOMAL, INCLUDED; MANB, INCLUDED |
| |
ALPHA-MANNOSIDOSIS |
| |
LYSOSOMAL ALPHA-D-MANNOSIDASE DEFICIENCY |
| |
MANNOSIDOSIS, ALPHA B, LYSOSOMAL |
|