Primary Identifier | MGI:1934754 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 85305 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables scaffold protein binding activity. Predicted to be involved in several processes, including ERK1 and ERK2 cascade; diadenosine tetraphosphate biosynthetic process; and lysyl-tRNA aminoacylation. Located in mitochondrion. Part of aminoacyl-tRNA synthetase multienzyme complex. Is expressed in several structures, including alimentary system; central nervous system; cranium; genitourinary system; and sensory organ. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease recessive intermediate B and autosomal recessive nonsyndromic deafness 89. Orthologous to human KARS1 (lysyl-tRNA synthetase 1). PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality prior to organogenesis. [provided by MGI curators] |