present in Gene: TIMM50
present in Chromosome: 19
Position on Chromosome: 39488169
Alleles of this Variant: G/A
rs797044891 in
TIMM50 gene and
Muscle hypotonia
PMID 17435247 2007 Involvement of the mitochondrial protein translocator component tim50 in growth, cell proliferation and the modulation of respiration in Drosophila.
PMID 12437925 2002 Tim50 is a subunit of the TIM23 complex that links protein translocation across the outer and inner mitochondrial membranes.
PMID 14517234 2003 Tim14, a novel key component of the import motor of the TIM23 protein translocase of mitochondria.
PMID 16763150 2006 Tim50 maintains the permeability barrier of the mitochondrial inner membrane.
PMID 12191765 2002 Protein import into and across the mitochondrial inner membrane: role of the TIM23 and TIM22 translocons.
PMID 15044455 2004 Tim50, a component of the mitochondrial translocator, regulates mitochondrial integrity and cell death.
PMID 16008839 2005 Tim50a, a nuclear isoform of the mitochondrial Tim50, interacts with proteins involved in snRNP biogenesis.
PMID 27573165 2017 Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations.
PMID 12437924 2002 The mitochondrial presequence translocase: an essential role of Tim50 in directing preproteins to the import channel.
PMID 16055927 2006 Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition.
PMID 19111522 2009 Neurological phenotype and reduced lifespan in heterozygous Tim23 knockout mice, the first mouse model of defective mitochondrial import.
PMID 11114504 2000 The rotary mechanism of ATP synthase.