Application | Comment | Organism |
---|---|---|
medicine | homozygosity for the V55A mutation in THG1L is the cause of an abnormal mitochondrial network in the patient fibroblasts, likely by interfering with THG1L activity towards MFN2 | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
V55A | homozygous mutation identified in three siblings who presented with cerebellar signs, developmental delay, dysarthria, and pyramidal signs and had cerebellar atrophy on brain MRI. A defect in the protein tRNAHis guanylyltransferase activity is excluded in vitro | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q9NWX6 | - |
- |
Synonyms | Comment | Organism |
---|---|---|
THG1L | - |
Homo sapiens |