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- Table of Contents
Facts about Isoleucine--tRNA ligase, mitochondrial.
Human | |
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Gene Name: | IARS2 |
Uniprot: | Q9NSE4 |
Entrez: | 55699 |
Belongs to: |
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class-I aminoacyl-tRNA synthetase family |
EC 6.1.1; EC 6.1.1.5; FLJ10326; ILERS; isoleucine tRNA ligase 2, mitochondrial; Isoleucine--tRNA ligase; isoleucine-tRNA synthetase 2, mitochondrial; isoleucyl-tRNA synthetase 2, mitochondrial; isoleucyl-tRNA synthetase, mitochondrial; mitochondrial isoleucine tRNA synthetase
Mass (kDA):
113.792 kDA
Human | |
---|---|
Location: | 1q41 |
Sequence: | 1; NC_000001.11 (220094132..220148041) |
Mitochondrion matrix.
PMID: 25130867 by Schwartzentruber J., et al. Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome.