YARS2 gene

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:

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]

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 32,755,961 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

• CGI-04
• MLASA2
• MT-TYRRS
• TYRRS