KIF1B encodes kinesin family member 1B (1,816 aa). Has a plus-end-directed microtubule motor activity and functions as a motor for transport of vesicles and organelles along microtubules Highest expression in Brain Cerebellar Hemisphere (105.8 TPM) and Brain Cerebellum (84.6 TPM).

Charcot-Marie-Tooth disease type 2A1 is associated with mutations in the KIF1B gene on chromosome 1.

KIF1B is classified as a druggable target (Clinically Actionable category) with score 0.0.

Genetic testing for KIF1B is available. Testing is considered unknown for diagnosis.

Biomarker and diagnostic research for Charcot-Marie-Tooth disease type 2A1 has been reported in the published literature.

No approved treatments are currently available for Charcot-Marie-Tooth disease type 2A1. An additional 1 compound holds orphan drug designation.

Orphan Drug Designations

While no drugs are FDA-approved specifically for Charcot-Marie-Tooth disease type 2A1, 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 type 2A1. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Gene therapy approaches for Charcot-Marie-Tooth disease type 2A1 have been reported in the published literature.

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

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

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

24 publications have been identified in PubMed for Charcot-Marie-Tooth disease type 2A1. Research spans Basic Science / Preclinical (42%), Case Report / Case Series (21%), and Review / Meta-Analysis (17%).

Recent Publications

• Ozes B (2026). [PMID: 41752078](https://pubmed.ncbi.nlm.nih.gov/41752078/). *Int J Mol Sci*. [Gene Therapy / Novel Therapeutics]

• Ando M (2026). [PMID: 41030121](https://pubmed.ncbi.nlm.nih.gov/41030121/). *Ann Clin Transl Neurol*. [Epidemiology / Natural History]

• Epstein L (2026). [PMID: 41889851](https://pubmed.ncbi.nlm.nih.gov/41889851/). *bioRxiv*. [Basic Science / Preclinical]

• Abati E (2026). [PMID: 42020662](https://pubmed.ncbi.nlm.nih.gov/42020662/). *Sci Rep*. [Diagnostic / Biomarker]

• Ando M (2026). [PMID: 41932155](https://pubmed.ncbi.nlm.nih.gov/41932155/). *Neurotherapeutics*. [Basic Science / Preclinical]

• Zanfardino P (2025). [PMID: 40149969](https://pubmed.ncbi.nlm.nih.gov/40149969/). *Biomolecules*. [Review / Meta-Analysis]

• Joaquim M (2025). [PMID: 40995860](https://pubmed.ncbi.nlm.nih.gov/40995860/). *J Cell Sci*. [Basic Science / Preclinical]

• Barsa C (2025). [PMID: 40121276](https://pubmed.ncbi.nlm.nih.gov/40121276/). *Sci Rep*. [Basic Science / Preclinical]

• Narendradev ND (2025). [PMID: 40444323](https://pubmed.ncbi.nlm.nih.gov/40444323/). *J Cell Sci*. [Basic Science / Preclinical]

• Han Y (2025). [PMID: 39779340](https://pubmed.ncbi.nlm.nih.gov/39779340/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Case Report / Case Series]