THG1L Chromosome 5
TRNA-histidine guanylyltransferase 1 like
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What This Gene Does
The protein encoded by this gene is a mitochondrial protein that is induced by high levels of glucose and is associated with diabetic nephropathy. The encoded protein appears to increase mitochondrial biogenesis, which could lead to renal fibrosis. Another function of this protein is that of a guanyltransferase, adding GMP to the 5' end of tRNA(His). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
Associated Conditions (4)
Neurodevelopmental disorder
Spinocerebellar ataxia
autosomal recessive 28
THG1L-related disorder
Key Variants
RS2113025862
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS1231208679
Pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS201920319
Pathogenic/Likely pathogenic
Spinocerebellar ataxia, autosomal recessive 28, THG1L-related disorder
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2113025862 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS1231208679 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS201920319 | Health Risk | Pathogenic/Likely pathogenic | Spinocerebellar ataxia, autosomal recessive 28, THG1L-related disorder |