Transfer RNA, Mitochondrial, Alanine

Alternative Names

  • tRNA-ALA, Mitochondrial
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OMIM Number

590000

NCBI Gene ID

4553

Length

81 bases

Genomic Location

chrMT:5,577-5,657

Description

tRNA-ALA is a mitochondrial noncoding gene that produces the nucleic acid adaptor molecule transfer RNA (tRNA).  tRNAs bind relevant amino acids and function during protein formation by providing the ribosome with the correct peptide sequence.  tRNA-ALA specifically adds alanine during translation.

Disorders associated with tRNA-ALA deficiency include myopathy, myotonic dystrophy-like disorders, and chronic progressive external ophthalmoplegia.

Molecular Genetics

tRNA-ALA is located in mitochondrial DNA and is 69 bases long ranging from 5587 to 5655 base pairs existing in the minus orientation.  It is a non-coding gene that transcribes into an alanine transporting RNA molecule.  It carries an alanine specific anti-codon sequence that binds specific mRNA codons during protein formation in the ribosome. 

Heteroplasmic loss-of-function mutations in tRNA-ALA are causative of myotonic dystrophy-like disorders, myopathy, and chronic progressive external ophthalmoplegia.  Mitochondrial genes are maternally inherited, and oocytes may contain a mixture of mitochondria with varying genotypes; therefore the clinical severity of tRNA-ALA deficiency is linked to mitochondrial heteroplasmy. 

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NC_012920.1:m.5591G>AUnited Arab EmiratesNC_012920.1:m.5591G>APathogenicPathogenicMitochondrial Myopathy, Infantile, Transient1214344589625
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