The previously assigned protein identifier Q86YH3 has been merged into Q5JPH6. Full details can be found on the UniProt database.
Immunogen
Synthetic peptide directed towards the middle region of human EARS2
Biochem/physiol Actions
EARS2 belongs to the class-I aminoacyl-tRNA synthetase family. The function of the EARS2 protein is not known.
Sequence
Synthetic peptide located within the following region: TAKHLLLYQALGWQPPHFAHLPLLLNRDGSKLSKRQGDVFLEHFAADGFL
Physical form
Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.
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To investigate the genetic etiology of a patient diagnosed with leukoencephalopathy, brain calcifications, and cysts (LCC). Whole-exome sequencing was performed on a patient with LCC and his unaffected family members. The variants were subject to in silico and in vitro
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