Details

Type
Mitochondrial Transfer RNA
Official Symbol
MT-TH
Official Name
mitochondrially encoded tRNA-His (CAU/C) [Source:HGNC Symbol;Acc:HGNC:7487]
Ensembl ID
ENSG00000210176
Bio databases IDs NCBI: 4564 Ensembl: ENSG00000210176
Aliases mitochondrially encoded tRNA-His (CAU/C)
Synonyms mt-Th-201, tRNA-His, TRNH
Species
Human, Homo sapiens

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MT-TH often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • triplet codon-amino acid adaptor

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • myelodysplastic syndrome
  • MELAS syndrome
  • pigmentary retinopathy and sensorineural deafness
  • MERRF/MELAS overlap syndrome
  • mitochondrially inherited nonsyndromic sensorineural deafness
  • mitochondrial disorder
  • idiopathic mitochondrial dilated cardiomyopathy
  • hypertrophic mitochondrial cardiomyopathy
regulated by
  • bardoxolone methyl

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • Mitochondria

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.