Ontology highlight
ABSTRACT:
SUBMITTER: Iqbal Z
PROVIDER: S-EPMC4755381 | biostudies-literature | 2016 Mar
REPOSITORIES: biostudies-literature
European journal of human genetics : EJHG 20150715 3
AIMP1/p43 is a multifunctional non-catalytic component of the multisynthetase complex. The complex consists of nine catalytic and three non-catalytic proteins, which catalyze the ligation of amino acids to their cognate tRNA isoacceptors for use in protein translation. To date, two allelic variants in the AIMP1 gene have been reported as the underlying cause of autosomal recessive primary neurodegenerative disorder. Here, we present two consanguineous families from Pakistan and Iran, presenting ...[more]