IGHMBP2 encodes immunoglobulin mu DNA binding protein 2 (993 aa). 5' to 3' helicase that unwinds RNA and DNA duplexes in an ATP-dependent reaction. Specific to 5'-phosphorylated single-stranded guanine-rich sequences. Highest expression in Testis (48.4 TPM) and Colon Sigmoid (33.5 TPM).

Charcot-Marie-Tooth disease axonal type 2S is associated with mutations in the IGHMBP2 gene on chromosome 11.

IGHMBP2 is classified as a druggable target (Enzyme and Transcription Factor Binding categories) with score 0.8.

Genetic testing for IGHMBP2 is available. Testing is considered confirmatory for diagnosis.

No approved treatments are currently available for Charcot-Marie-Tooth disease axonal type 2S. An additional 1 compound holds orphan drug designation.

Orphan Drug Designations

While no drugs are FDA-approved specifically for Charcot-Marie-Tooth disease axonal type 2S, some of the following designated compounds may be used off-label in clinical practice. Treatment decisions should be made in consultation with a specialist familiar with this condition.

The following drugs have received orphan drug designation from the FDA for Charcot-Marie-Tooth disease axonal type 2S. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Gene therapy approaches for Charcot-Marie-Tooth disease axonal type 2S have been reported in the published literature.

Phenotype severity distribution: 2 always present features, 1 very common feature, 2 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

1 clinical trial registered. Interventions under study include biologic therapy. Pipeline includes 1 PHASE1. Research is primarily sponsored by academic and government institutions.

14 publications have been identified in PubMed for Charcot-Marie-Tooth disease axonal type 2S. Research spans Review / Meta-Analysis (29%), Basic Science / Preclinical (29%), and Case Report / Case Series (21%).

Recent Publications

• Bektaş H (2026). [PMID: 41468720](https://pubmed.ncbi.nlm.nih.gov/41468720/). *Neuromuscul Disord*. [Case Report / Case Series]

• Pagliari E (2026). [PMID: 41486111](https://pubmed.ncbi.nlm.nih.gov/41486111/). *J Biomed Sci*. [Gene Therapy / Novel Therapeutics]

• Gao S (2025). [PMID: 39815358](https://pubmed.ncbi.nlm.nih.gov/39815358/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]

• Tkemaladze T (2025). [PMID: 40353295](https://pubmed.ncbi.nlm.nih.gov/40353295/). *Am J Med Genet A*. [Case Report / Case Series]

• Torres FJL (2025). [PMID: 41276031](https://pubmed.ncbi.nlm.nih.gov/41276031/). *Neurobiol Dis*. [Basic Science / Preclinical]

• Yavas C (2025). [PMID: 39705914](https://pubmed.ncbi.nlm.nih.gov/39705914/). *Brain Dev*. [Review / Meta-Analysis]

• Rice AD (2025). [PMID: 40833344](https://pubmed.ncbi.nlm.nih.gov/40833344/). *J Peripher Nerv Syst*. [Basic Science / Preclinical]

• Liu L (2025). [PMID: 42032993](https://pubmed.ncbi.nlm.nih.gov/42032993/). *Zhong Nan Da Xue Xue Bao Yi Xue Ban*. [Basic Science / Preclinical]

• Smieszek S (2025). [PMID: 40060931](https://pubmed.ncbi.nlm.nih.gov/40060931/). *Mol Ther Nucleic Acids*. [Gene Therapy / Novel Therapeutics]

• Rzepnikowska W (2024). [PMID: 39119929](https://pubmed.ncbi.nlm.nih.gov/39119929/). *Neuropathol Appl Neurobiol*. [Review / Meta-Analysis]