Variant: rs104894519 

    present in Gene: LITAF
    present in Chromosome: 16
    Position on Chromosome: 11553576
    Alleles of this Variant: C/T

rs104894519 in LITAF gene and Charcot-Marie-Tooth disease, Type 1C PMID 24604904 2014 Application of whole exome sequencing in undiagnosed inherited polyneuropathies.

PMID 12525712 2003 Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C.

PMID 23166352 2012 Charcot-Marie-Tooth disease-linked protein SIMPLE functions with the ESCRT machinery in endosomal trafficking.

PMID 15776429 2005 SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation.

PMID 16118794 2005 SIMPLE interacts with NEDD4 and TSG101: evidence for a role in lysosomal sorting and implications for Charcot-Marie-Tooth disease.

PMID 15122712 2004 SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve.

PMID 25058650 2014 LITAF mutations associated with Charcot-Marie-Tooth disease 1C show mislocalization from the late endosome/lysosome to the mitochondria.

PMID 21896645 2011 Mutations associated with Charcot-Marie-Tooth disease cause SIMPLE protein mislocalization and degradation by the proteasome and aggresome-autophagy pathways.

PMID 15786462 2005 Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease.

PMID 23576546 2013 Mutation of SIMPLE in Charcot-Marie-Tooth 1C alters production of exosomes.