LITAF Chromosome 16
Lipopolysaccharide induced TNF factor
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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 |