| Attribute | Value |
|---|---|
| Gene Symbol | LITAF |
| Full Name | Lipopolysaccharide-Induced Tumor Necrosis Factor Factor |
| Chromosomal Location | 16p13.13 |
| NCBI Gene ID | 9516 |
| OMIM ID | 604577 |
| Ensembl ID | ENSG00000106789 |
| UniProt ID | Q9Y5K2 |
| Associated Diseases | Charcot-Marie-Tooth Disease Type 1C, CMT with Vocal Cord Paralysis |
LITAF (Lipopolysaccharide-Induced Tumor Necrosis Factor Factor) encodes a protein involved in inflammation and immune responses. It is also known as SIMPLE (Small Integral Membrane Protein of Lysosome/Late Endosome). LITAF mutations cause Charcot-Marie-Tooth disease type 1C (CMT1C), a hereditary peripheral neuropathy.
The LITAF gene encodes a transcription factor that regulates the expression of tumor necrosis factor-alpha (TNF-α) and other inflammatory genes. LITAF (also called SIMPLE) is involved in cellular stress responses and protein quality control.
LITAF functions in:
LITAF mutations cause CMT1C, a demyelinating form of Charcot-Marie-Tooth disease:
Some LITAF mutations are associated with vocal cord paralysis in addition to typical CMT symptoms.
LITAF is expressed in: