Gene: LITAF

Alternate names for this Gene: PIG7|SIMPLE|TP53I7

Gene Summary: Lipopolysaccharide is a potent stimulator of monocytes and macrophages, causing secretion of tumor necrosis factor-alpha (TNF-alpha) and other inflammatory mediators. This gene encodes lipopolysaccharide-induced TNF-alpha factor, which is a DNA-binding protein and can mediate the TNF-alpha expression by direct binding to the promoter region of the TNF-alpha gene. The transcription of this gene is induced by tumor suppressor p53 and has been implicated in the p53-induced apoptotic pathway. Mutations in this gene cause Charcot-Marie-Tooth disease type 1C (CMT1C) and may be involved in the carcinogenesis of extramammary Paget's disease (EMPD). Multiple alternatively spliced transcript variants have been found for this gene.

Gene is located in Chromosome: 16

Location in Chromosome : 16p13.13

Description of this Gene: lipopolysaccharide induced TNF factor

Type of Gene: protein-coding

rs8046213 in LITAF gene and Charcot-Marie-Tooth Disease, Type Ia (disorder) PMID 30958311 2019 Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study.

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.

rs11641184 in LITAF gene and Crohn Disease PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

rs11641184 in LITAF gene and Inflammatory Bowel Diseases PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

rs7198919 in LITAF gene and QRS complex feature PMID 27659466 2016 52 Genetic Loci Influencing Myocardial Mass.

rs11643990 in LITAF gene and QT interval feature (observable entity) PMID 30679814 2019 Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits.

PMID 24952745 2014 Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.

PMID 19305409 2009 Common variants at ten loci modulate the QT interval duration in the QTSCD Study.

PMID 29213071 2017 GWAS of the electrocardiographic QT interval in Hispanics/Latinos generalizes previously identified loci and identifies population-specific signals.

PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 19305408 2009 Common variants at ten loci influence QT interval duration in the QTGEN Study.

PMID 23166209 2012 Impact of ancestry and common genetic variants on QT interval in African Americans.

rs11641184 in LITAF gene and Ulcerative Colitis PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

rs7102 in LITAF gene and Waist-Hip Ratio PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.