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IGHMBP2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

IGHMBP2 gene

The IGHMBP2 gene encodes an enzyme that acts as a helicase, playing a critical role in DNA replication and protein production.

Normal Function

The IGHMBP2 gene provides instructions for making an enzyme called immunoglobulin mu DNA binding protein 2 (IGHMBP2). This enzyme functions as a helicase, which attaches to DNA and temporarily unwinds its strands.

This unwinding is necessary for:

  • DNA replication: Copying chromosomes before a cell divides.
  • RNA production: Creating RNA molecules.
  • Translation: The process of producing proteins from RNA.
The IGHMBP2 protein is produced in cells throughout the body.

Health Conditions Related to Genetic Changes

Spinal muscular atrophy with respiratory distress type 1

More than 60 mutations in the IGHMBP2 gene have been found to cause spinal muscular atrophy with respiratory distress type 1 (SMARD1), an inherited condition causing muscle weakness and respiratory failure in infancy.

  • These mutations typically disrupt the protein's ability to unwind DNA and RNA.
  • The resulting loss of helicase function impedes DNA replication and the production of essential proteins.
  • These defects specifically damage alpha-motor neurons in the brainstem and spinal cord, which control muscle movement.
  • The cumulative death of these neurons leads to progressive muscle weakness and breathing difficulties.

Other Names for This Gene

  • cardiac transcription factor 1
  • CATF1
  • FLJ34220
  • FLJ41171
  • HCSA
  • HMN6
  • immunoglobulin mu binding protein 2
  • SMARD1
  • SMBP2_HUMAN
  • SMUBP2

Frequently Asked Questions

definitive diagnosis is made by sequencing the IGHMBP2 gene, usually via a targeted next‑generation panel or whole‑exome sequencing that looks for pathogenic mutations; results are interpreted by a clinical geneticist and confirmed with parental carrier testing.
The first clues are often unexplained respiratory distress or failure to thrive in the first few months of life, combined with weak cry, poor sucking, and progressive limb weakness; electromyography showing motor neuron loss supports the suspicion before genetic results return.
Currently treatment is supportive: early respiratory assistance (non‑invasive ventilation or tracheostomy), physiotherapy to preserve muscle function, and nutritional support; experimental approaches such as gene‑replacement or antisense oligonucleotides are in early clinical trials but not yet standard care.
SMARD1 follows an autosomal recessive pattern; both parents are carriers of one IGHMBP2 mutation, giving each subsequent pregnancy a 25 % chance of an affected child, a 50 % chance of a carrier, and a 25 % chance of an unaffected non‑carrier. Genetic counseling and options such as prenatal diagnosis or pre‑implantation genetic testing are recommended for families planning more children.
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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