Reviewed December 2007
What is the official name of the MAN2B1 gene?
The official name of this gene is “mannosidase, alpha, class 2B, member 1.”
MAN2B1 is the gene's official symbol. The MAN2B1 gene is also known by other names, listed below.
What is the normal function of the MAN2B1 gene?
The MAN2B1 gene provides instructions for making the enzyme alpha-mannosidase. This enzyme works in the lysosomes, which are compartments that digest and recycle materials in the cell. Within lysosomes, the enzyme helps break down complexes of sugar molecules (oligosaccharides) attached to certain proteins (glycoproteins). In particular, alpha-mannosidase helps break down oligosaccharides containing a sugar molecule called mannose.
How are changes in the MAN2B1 gene related to health conditions?
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alpha-mannosidosis - caused by mutations in the MAN2B1 gene
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Approximately 70 mutations that cause alpha-mannosidosis have been identified in the MAN2B1 gene. Some of these mutations change one protein building block (amino acid) in the alpha-mannosidase enzyme. Other mutations result in an abnormally shortened enzyme, or cause the enzyme to be pieced together incorrectly.
These mutations interfere with the ability of the alpha-mannosidase enzyme to perform its role in breaking down mannose-containing oligosaccharides. These oligosaccharides accumulate in the lysosomes and cause the cells to malfunction and eventually die, resulting in the signs and symptoms of alpha-mannosidosis.
Where is the MAN2B1 gene located?
Cytogenetic Location: 19cen-q13.1
Molecular Location on chromosome 19: base pairs 12,618,321 to 12,638,827
The MAN2B1 gene is located on chromosome 19 between the centromere (junction of the long and short arm) and the long (q) arm at position 13.1.
More precisely, the MAN2B1 gene is located from base pair 12,618,321 to base pair 12,638,827 on chromosome 19.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about MAN2B1?
You and your healthcare professional may find the following resources about MAN2B1 helpful.
- Educational resources - Information pages
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed
- Recent literature
- OMIM - Genetic disorder catalog
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What other names do people use for the MAN2B1 gene or gene products?
- LAMAN
- lysosomal acid alpha-mannosidase
- MA2B1_HUMAN
- MANB
- mannosidase, alpha B, lysosomal
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding MAN2B1?
acids ;
amino acid ;
cell ;
class ;
enzyme ;
gene ;
lysosome ;
molecule ;
mutation ;
protein ;
sign ;
symptom
You may find definitions for these and many other terms in the Genetics Home Reference
Glossary.
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
healthcare professional.
See How can I find a genetics professional in my area? in the Handbook.
