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Protein Coding Gene : Timm50 translocase of inner mitochondrial membrane 50

Primary Identifier  MGI:1913775 Organism  mouse, laboratory
Chromosome  7 NCBI Gene Number  66525
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0)

Predicted to enable several functions, including cysteine-type endopeptidase activator activity; interleukin-2 receptor binding activity; and phosphoprotein phosphatase activity. Predicted to be involved in mitochondrial membrane organization; protein dephosphorylation; and protein import into mitochondrial matrix. Predicted to act upstream of or within release of cytochrome c from mitochondria. Located in mitochondrion. Is expressed in several structures, including adrenal gland; alimentary system; cerebral cortex; olfactory epithelium; and submandibular gland primordium. Human ortholog(s) of this gene implicated in 3-methylglutaconic aciduria type 9. Orthologous to human TIMM50 (translocase of inner mitochondrial membrane 50).
PHENOTYPE: Mice homozygous for a null allele exhibit increased pressure overload-induced cardiac hypertrophy with impaired systolic function, cardiac fibrosis, increased oxidative stress and apoptosis. [provided by MGI curators]
  • synonyms:
  • RIKEN cDNA 2810403L02 gene,
  • Timm50,
  • translocase of inner mitochondrial membrane 50,
  • expressed sequence AU015082,
  • 2810403L02Rik,
  • AU015082,
  • TIM50L,
  • MGI:2142111

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