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NEB gene

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

NEB gene

The NEB gene provides instructions for making nebulin, a protein critical for the structure and contraction of skeletal muscles.

Normal Function

The NEB gene provides instructions for making a protein called nebulin. This protein plays an important role in skeletal muscles, which are muscles used for movement. Within skeletal muscle cells, nebulin is found in structures called sarcomeres. Sarcomeres are necessary for muscles to tense (contract). Nebulin is one of several proteins that interact to generate the mechanical force needed for muscle contraction.

Health Conditions Related to Genetic Changes

Nemaline myopathy

More than 60 mutations in the NEB gene have been found to cause nemaline myopathy. Some of these mutations change single protein building blocks (amino acids) in the nebulin protein or result in the production of an abnormally short protein. Other mutations insert or delete genetic material in the NEB gene.

Most NEB gene mutations alter the structure or reduce the production of nebulin. A lack of functional nebulin impairs the muscle cells' ability to contract. Inefficient muscle contraction leads to muscle weakness and the other features of nemaline myopathy.

Other Names for This Gene

  • NEBU_HUMAN
  • NEM2

Frequently Asked Questions

Infants and children often show generalized muscle weakness, hypotonia, feeding difficulties, and delayed motor milestones; older patients may have persistent proximal weakness, facial weakness, and characteristic “nemaline bodies” seen on muscle biopsy.
blood sample (or saliva) is collected for DNA extraction, and next‑generation sequencing panels for congenital myopathies or whole‑exome sequencing are used to detect point mutations, deletions, or duplications in the NEB gene.
There is no cure, but multidisciplinary care helps: physical and occupational therapy to maintain strength and range of motion, respiratory support when needed, and, in some cases, trial of acetyl‑L‑carnitine or other metabolic supplements; management of orthopedic complications (e.g., scoliosis) is also important.
Yes. Genetic counseling explains the autosomal recessive inheritance, carrier testing for parents and siblings, and discusses options such as prenatal diagnosis (CVS/amniocentesis) or pre‑implantation genetic testing for embryos in future pregnancies.===
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.