MT-TL1 across dismech

MT-TL1 (mitochondrially encoded tRNA-Leu (UUA/G) 1) is named by 1 disorder entry. It is a mitochondrial-DNA-encoded transfer RNA, the gene of the common m.3243A>G variant.

Normal function

The pinned ai-gene-review snapshot that the ingest layer reads has no core functions for MT-TL1 (0 terms), because no review of the gene existed when it was pinned. An upstream review is being added. It describes the tRNA's codon-to-amino-acid adaptor role, decoding UUA and UUG leucine codons in mitochondrial translation.

Causative records

One entry types MT-TL1 as causative: MELAS Syndrome. It records the variants as germline (germline). In MELAS Syndrome the gene sits on the nodes Taurine wobble-modification deficiency of tRNA-Leu(UUR) and Mitochondrial tRNA-Leu(UUR) translation defect. The KB's mechanism annotations for MT-TL1 name the processes mitochondrial translation; tRNA aminoacylation for protein translation; tRNA wobble uridine modification.

Where the layers disagree

ClinGen classifies MT-TL1 for 2 diseases. The ClinGen disease with no matching dismech entry is mitochondrial disease. Because the pinned ai-gene-review snapshot has no core functions for the gene, the KB and ai-gene-review currently share 0 GO process terms.