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Immunogen sequence: RSLEEEKAAV TEAVRALLAN QDSGEVQQDP KYQGLRARGR EIRKELVHLY PREAQLEEQF YLQALKLPNQ THPD
This gene encodes the mitochondrial seryl-tRNA synthetase precursor, a member of the class II tRNA synthetase family. The mature enzyme catalyzes the ligation of Serine to tRNA(Ser) and participates in the biosynthesis of selenocysteinyl-tRNA(sec) in mitochondria. The enzyme contains an N-terminal tRNA binding domain and a core catalytic domain. It functions in a homodimeric form, which is stabilized by tRNA binding. This gene is regulated by a bidirectional promoter that also controls the expression of mitochondrial ribosomal protein S12. Both genes are within the critical interval for the autosomal dominant deafness locus DFNA4 and might be linked to this disease. Multiple transcript variants encoding different isoforms have been identified for this gene.
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Protein Aliases: EC 6.1.1.11; mitochondrial seryl-tRNA synthetase; serine tRNA ligase 2, mitochondrial; Serine--tRNA ligase, mitochondrial; serine-tRNA ligase; serine-tRNA ligase, mitochondrial; SerRS; SerRSmt; Seryl-tRNA synthetase; seryl-tRNA synthetase, mitochondrial; Seryl-tRNA(Ser/Sec) synthetase
Gene Aliases: mtSerRS; SARS; SARS2; SARSM; SerRS; SerRSmt; SERS; SYS
UniProt ID: (Human) Q9NP81
Entrez Gene ID: (Human) 54938
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