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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.
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.
More than 120 mutations in the MAN2B1 gene have been identified in people with alpha-mannosidosis, a rare inherited disorder that causes problems in many organs and tissues of the body. Affected individuals may have intellectual disability, distinctive facial features, and skeletal abnormalities. Some of the MAN2B1 gene mutations that cause alpha-mannosidosis 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. Tissues and organs are damaged by the abnormal accumulation of oligosaccharides and the resulting cell death, leading to the characteristic features of alpha-mannosidosis.
Cytogenetic Location: 19p13.2
Molecular Location on chromosome 19: base pairs 12,646,507 to 12,666,776
The MAN2B1 gene is located on the short (p) arm of chromosome 19 at position 13.2.
More precisely, the MAN2B1 gene is located from base pair 12,646,507 to base pair 12,666,776 on chromosome 19.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about MAN2B1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
amino acid ; cell ; class ; disability ; enzyme ; gene ; glycoproteins ; inherited ; mannose ; molecule ; oligosaccharides ; protein
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.