Title : Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome.

Pub. Date : 2013 Apr 4

PMID : 23541342






2 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 LARS2 p.Thr629Met occurs in the LARS2 leucine-specific domain, which is adjacent to a catalytic loop critical in all species but for which primary sequence is not well conserved. Leucine leucyl-tRNA synthetase 2, mitochondrial Homo sapiens
2 LARS2 p.Thr629Met occurs in the LARS2 leucine-specific domain, which is adjacent to a catalytic loop critical in all species but for which primary sequence is not well conserved. Leucine leucyl-tRNA synthetase 2, mitochondrial Homo sapiens