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MANBA gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

MANBA gene

The MANBA gene provides instructions for the beta-mannosidase enzyme, which is essential for the final steps of breaking down specific sugar complexes in the body.

Normal Function

The MANBA gene provides instructions for making the enzyme beta-mannosidase. This enzyme works within lysosomes to digest and recycle materials. It is involved in the final step of breaking down complexes of sugar molecules (oligosaccharides) attached to glycoproteins, specifically targeting two-sugar molecules (disaccharides) that contain mannose.

Health Conditions Related to Genetic Changes

Beta-mannosidosis

Variants (mutations) in the MANBA gene cause beta-mannosidosis. This disorder affects how certain sugar molecules are processed, leading to various nervous system problems. The gene variants result in a beta-mannosidase enzyme with little or no activity. Consequently, mannose-containing disaccharides accumulate in the lysosomes, causing cells to malfunction and resulting in the signs and symptoms of the condition.

Other Names for This Gene

  • MANB1
  • MANBA_HUMAN
  • mannanase
  • mannase
  • mannosidase, beta A, lysosomal

Frequently Asked Questions

Beta-mannosidosis is an autosomal recessive genetic disorder. This means that for a child to be affected, they must inherit a mutated MANBA gene from both parents. If both parents are carriers (meaning they each have one normal and one mutated gene), there is a 25% chance with each pregnancy that their child will have the disorder. Genetic counseling can help families understand their risks and options.
Diagnosis often involves a combination of clinical evaluation, enzyme activity testing (measuring beta-mannosidase levels in blood or tissue samples), and genetic testing to identify mutations in the MANBA gene. Urine tests can also detect the accumulation of specific sugar molecules.
Beta-mannosidosis primarily affects the nervous system. Common issues can include intellectual disability, hearing loss, speech problems, seizures, and behavioral difficulties. Some individuals may also experience muscle weakness or problems with coordination.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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