TRMT10A
Function
S-adenosyl-L-methionine-dependent guanine N(1)-methyltransferase that catalyzes the formation of N(1)-methylguanine at position 9 (m1G9) in tRNAs (PubMed:23042678, PubMed:25053765). Probably not able to catalyze formation of N(1)-methyladenine at position 9 (m1A9) in tRNAs (PubMed:23042678).
Involvement in disease
Microcephaly, short stature, and impaired glucose metabolism 1
MSSGM1
An autosomal recessive disease characterized by microcephaly, intellectual disability, short stature, and disturbed glucose metabolism. Additional clinical features include delayed puberty, hypoglycemia-related seizures, hyperinsulinemic hypoglycemia, and early-onset diabetes.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the class IV-like SAM-binding methyltransferase superfamily. TRM10 family.
Tissue Specificity
Expressed in embryonic and fetal brain. It is expressed throughout the dorsal telencephalon at 8 and 11 weeks of gestation, with highest expression in ventricular zone and marginal zone. Detected in cerebellar cortex and nuclei, but not in dorsal telencephalon, at later stages.
Cellular localization
- Nucleus
- Nucleus
- Nucleolus
Alternative names
RG9MTD2, TRMT10A, tRNA methyltransferase 10 homolog A, RNA (guanine-9-)-methyltransferase domain-containing protein 2, tRNA (guanine(9)-N(1))-methyltransferase TRMT10A