LITAF Chromosome 16

Lipopolysaccharide induced TNF factor
25 variants 25 Health Risk

Upload your DNA to see your personal genotypes for variants in LITAF.

What This Gene Does
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. [provided by RefSeq, Dec 2014]
Associated Conditions (5)
Charcot-Marie-Tooth disease type 1C
Inborn genetic diseases
Charcot-Marie-Tooth disease
Hereditary ataxia
Tip-toe gait
Key Variants
RS1267030887
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 1C, Inborn genetic diseases, Charcot-Marie-Tooth disease type 1C
Health Risk
RS1324125372
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 1C, Charcot-Marie-Tooth disease, Inborn genetic diseases
Health Risk
RS138041990
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 1C, Charcot-Marie-Tooth disease, Inborn genetic diseases
Health Risk
RS141862602
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 1C, Charcot-Marie-Tooth disease, Inborn genetic diseases
Health Risk
RS201283647
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 1C, Charcot-Marie-Tooth disease, Inborn genetic diseases
Health Risk
RS371334679
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 1C, Inborn genetic diseases, Charcot-Marie-Tooth disease type 1C
Health Risk
RS371453151
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 1C, Charcot-Marie-Tooth disease
Health Risk
RS372309415
Conflicting classifications of pathogenicity
Inborn genetic diseases, Charcot-Marie-Tooth disease type 1C, Inborn genetic diseases
Health Risk
RS373445989
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 1C, Inborn genetic diseases, Charcot-Marie-Tooth disease type 1C
Health Risk
RS375665454
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 1C, Charcot-Marie-Tooth disease, Hereditary ataxia
Health Risk
RS529766640
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 1C, Inborn genetic diseases, Charcot-Marie-Tooth disease type 1C
Health Risk
RS748017885
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 1C, Inborn genetic diseases
Health Risk
All Variants (25)
RSID Category Clinical Significance Conditions
RS1267030887 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1C, Inborn genetic diseases, Charcot-Marie-Tooth disease type 1C
RS1324125372 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1C, Charcot-Marie-Tooth disease, Inborn genetic diseases
RS138041990 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1C, Charcot-Marie-Tooth disease, Inborn genetic diseases
RS141862602 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1C, Charcot-Marie-Tooth disease, Inborn genetic diseases
RS201283647 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1C, Charcot-Marie-Tooth disease, Inborn genetic diseases
RS371334679 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1C, Inborn genetic diseases, Charcot-Marie-Tooth disease type 1C
RS371453151 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 1C, Charcot-Marie-Tooth disease
RS372309415 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease type 1C, Inborn genetic diseases
RS373445989 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1C, Inborn genetic diseases, Charcot-Marie-Tooth disease type 1C
RS375665454 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1C, Charcot-Marie-Tooth disease, Hereditary ataxia
RS529766640 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1C, Inborn genetic diseases, Charcot-Marie-Tooth disease type 1C
RS748017885 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 1C, Inborn genetic diseases
RS752978718 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1C, Inborn genetic diseases, Charcot-Marie-Tooth disease type 1C
RS753060675 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1C, Inborn genetic diseases, Charcot-Marie-Tooth disease type 1C
RS755155866 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1C, Inborn genetic diseases, Charcot-Marie-Tooth disease type 1C
RS780788687 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1C, Charcot-Marie-Tooth disease, Inborn genetic diseases
RS886051653 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1C, Inborn genetic diseases, Charcot-Marie-Tooth disease type 1C
RS969563231 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1C, Charcot-Marie-Tooth disease type 1C
RS200709345 Health Risk Likely pathogenic Tip-toe gait, Tip-toe gait
RS281865135 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 1C, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 1C
RS104894519 Health Risk Pathogenic Charcot-Marie-Tooth disease type 1C, Charcot-Marie-Tooth disease, Inborn genetic diseases
RS104894521 Health Risk Pathogenic Charcot-Marie-Tooth disease type 1C, Charcot-Marie-Tooth disease type 1C
RS104894522 Health Risk Pathogenic Charcot-Marie-Tooth disease type 1C, Charcot-Marie-Tooth disease type 1C
RS281865134 Health Risk Pathogenic Charcot-Marie-Tooth disease type 1C, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 1C
RS104894520 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 1C, Charcot-Marie-Tooth disease type 1C
Sign Up to Analyze Your DNA Log In