THG1L
Function
Adds a GMP to the 5'-end of tRNA(His) after transcription and RNase P cleavage. This step is essential for proper recognition of the tRNA and for the fidelity of protein synthesis (Probable). Also functions as a guanyl-nucleotide exchange factor/GEF for the MFN1 and MFN2 mitofusins thereby regulating mitochondrial fusion (PubMed:25008184, PubMed:27307223). By regulating both mitochondrial dynamics and bioenergetic function, it contributes to cell survival following oxidative stress (PubMed:25008184, PubMed:27307223).
Involvement in disease
Spinocerebellar ataxia, autosomal recessive, 28
SCAR28
A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR28 patients manifest mild motor developmental delay, gait ataxia, and dysarthria. Some patients show mildly impaired intellectual development. Disease onset is in early childhood.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the tRNA(His) guanylyltransferase family.
Tissue Specificity
Expressed in many tissues.
Cellular localization
- Cytoplasm
- Mitochondrion outer membrane
Alternative names
ICF45, THG1L, Probable tRNA(His) guanylyltransferase, Induced in high glucose-1, Interphase cytoplasmic foci protein 45, tRNA-histidine guanylyltransferase, IHG-1