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MAN2B1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

MAN2B1 gene

The MAN2B1 gene provides instructions for creating the alpha-mannosidase enzyme, which is critical for breaking down sugar complexes within cells.

Normal Function

The MAN2B1 gene provides instructions for making the enzyme alpha-mannosidase. This enzyme functions within lysosomes, the compartments in cells that digest and recycle materials. Specifically, alpha-mannosidase helps break down complexes of sugar molecules (oligosaccharides) that contain mannose and are attached to proteins called glycoproteins.

Health Conditions Related to Genetic Changes

Alpha-mannosidosis

More than 120 mutations in the MAN2B1 gene have been identified in people with alpha-mannosidosis, a rare inherited disorder. Affected individuals may experience intellectual disability, distinctive facial features, and skeletal abnormalities.

The mutations interfere with the ability of the alpha-mannosidase enzyme to break down mannose-containing oligosaccharides. These substances accumulate in the lysosomes, causing cells to malfunction and eventually die. This damage to tissues and organs leads to the characteristic features of the disorder.

Other Names for This Gene

  • LAMAN
  • lysosomal acid alpha-mannosidase
  • MA2B1_HUMAN
  • MANB
  • mannosidase, alpha B, lysosomal
  • mannosidase, alpha, class 2B, member 1

Frequently Asked Questions

Symptoms can vary in severity but often include intellectual disability, distinctive facial features (such as a prominent forehead, flattened nasal bridge, or large tongue), and skeletal abnormalities (like joint stiffness or spinal curvature). These signs can become noticeable in early childhood, though the exact age of onset and progression can differ.
Currently, there is no cure for alpha-mannosidosis, but treatments focus on managing symptoms and improving quality of life. This can include physical therapy, occupational therapy, speech therapy, and educational support. In some cases, enzyme replacement therapy or bone marrow transplantation are being explored or used, but their effectiveness and risks are still under evaluation.
lpha-mannosidosis is an autosomal recessive disorder. This means a child must inherit two copies of the mutated MAN2B1 gene, one from each parent, to develop the condition. Parents who each carry one copy of the mutated gene are typically unaffected but are considered carriers. Genetic counseling can help families understand their risk.
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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