LITAF encodes lipopolysaccharide induced TNF factor (161 aa). Plays a role in endosomal protein trafficking and in targeting proteins for lysosomal degradation. Highest expression in Whole Blood (372.3 TPM) and Lung (152.5 TPM).

Charcot-Marie-Tooth disease type 1C is associated with mutations in the LITAF gene on chromosome 16.

The LITAF protein participates in Trunk bipotent pancreatic progenitor cell produces pancreatic ductal cell pathway.

LITAF is classified as a druggable target with score 0.0.

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

Phenotype severity distribution: 7 always present features, 4 common features.

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.

1 publication has been identified in PubMed for Charcot-Marie-Tooth disease type 1C. Research spans Case Report / Case Series (100%).

Recent Publications

• Habib S (2025). [PMID: 40688573](https://pubmed.ncbi.nlm.nih.gov/40688573/). *SAGE Open Med Case Rep*. [Case Report / Case Series]