YARS2 gene
tyrosyl-tRNA synthetase 2
The information on this page was automatically extracted from online scientific databases.
From NCBI Gene:
This gene encodes a mitochondrial protein that catalyzes the attachment of tyrosine to tRNA(Tyr). Mutations in this gene are associated with myopathy with lactic acidosis and sideroblastic anemia type 2 (MLASA2). [provided by RefSeq, Jan 2011]
From UniProt:
Catalyzes the attachment of tyrosine to tRNA(Tyr) in a two-step reaction: tyrosine is first activated by ATP to form Tyr-AMP and then transferred to the acceptor end of tRNA(Tyr).
Related Information
From NCBI Gene:
- Myopathy, lactic acidosis, and sideroblastic anemia 2
From UniProt:
Myopathy with lactic acidosis and sideroblastic anemia 2 (MLASA2): A rare oxidative phosphorylation disorder specific to skeletal muscle and bone marrow. Affected individuals manifest sideroblastic anemia, progressive lethargy, muscle weakness, and exercise intolerance associated with persistent lactic acidemia. [MIM:613561]
Related Information
Cytogenetic Location: 12p11.21, which is the short (p) arm of chromosome 12 at position 11.21
Molecular Location: base pairs 32,725,247 to 32,756,458 on chromosome 12 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Related Information
- CGI-04
- MLASA2
- MT-TYRRS
- TYRRS