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MANBA

MANBA

Reviewed January 2008

What is the official name of the MANBA gene?

The official name of this gene is “mannosidase, beta A, lysosomal.”

MANBA is the gene's official symbol. The MANBA gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the MANBA gene?

The MANBA gene provides instructions for making the enzyme beta-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). Beta-mannosidase is involved in the last step of this process, helping to break down complexes of two sugar molecules (disaccharides) containing a sugar molecule called mannose.

How are changes in the MANBA gene related to health conditions?

beta-mannosidosis - caused by mutations in the MANBA gene

Approximately 12 mutations that cause beta-mannosidosis have been identified in the MANBA gene. The mutations result in a beta-mannosidase enzyme with little or no activity, and interfere with the ability of the enzyme to perform its role in breaking down mannose-containing disaccharides. These disaccharides gradually accumulate in the lysosomes and cause cells to malfunction, resulting in the signs and symptoms of beta-mannosidosis.

Where is the MANBA gene located?

Cytogenetic Location: 4q24

Molecular Location on chromosome 4: base pairs 102,631,485 to 102,760,993

The MANBA gene is located on the long (q) arm of chromosome 4 at position 24.

The MANBA gene is located on the long (q) arm of chromosome 4 at position 24.

More precisely, the MANBA gene is located from base pair 102,631,485 to base pair 102,760,993 on chromosome 4.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about MANBA?

You and your healthcare professional may find the following resources about MANBA helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the MANBA gene or gene products?

  • MANB1
  • MANBA_HUMAN
  • mannanase
  • mannase

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 MANBA?

cell ; enzyme ; gene ; glycoproteins ; mannose ; molecule ; oligosaccharides

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (9 links)

 

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.

 
Reviewed: January 2008
Published: November 17, 2014