FOXN1 Chromosome 17
Forkhead box N1
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What This Gene Does
Mutations in the winged-helix transcription factor gene at the nude locus in mice and rats produce the pleiotropic phenotype of hairlessness and athymia, resulting in a severely compromised immune system. This gene is orthologous to the mouse and rat genes and encodes a similar DNA-binding transcription factor that is thought to regulate keratin gene expression. A mutation in this gene has been correlated with T-cell immunodeficiency, the skin disorder congenital alopecia, and nail dystrophy. Alternative splicing in the 5' UTR of this gene has been observed. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Forkhead boxes
Locus Type
gene with protein product
Location
17q11.2
Ensembl
ENSG00000109101
Associated Conditions (15)
T-cell immunodeficiency
congenital alopecia
and nail dystrophy
FOXN1-related disorder
T-cell lymphopenia
infantile
with or without nail dystrophy
autosomal dominant
Inborn genetic diseases
Severe combined immunodeficiency disease
T-CELL LYMPHOPENIA
INFANTILE
WITHOUT NAIL DYSTROPHY
AUTOSOMAL DOMINANT
T-lymphocyte deficiency
Key Variants
RS137872361
Conflicting classifications of pathogenicity
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
Health Risk
RS138295148
Conflicting classifications of pathogenicity
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
Health Risk
RS139218809
Conflicting classifications of pathogenicity
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
Health Risk
RS146694795
Conflicting classifications of pathogenicity
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
Health Risk
RS148006498
Conflicting classifications of pathogenicity
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
Health Risk
RS150671729
Conflicting classifications of pathogenicity
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
Health Risk
RS181483148
Conflicting classifications of pathogenicity
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
Health Risk
RS184956155
Conflicting classifications of pathogenicity
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
Health Risk
RS185748978
Conflicting classifications of pathogenicity
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
Health Risk
RS202144980
Conflicting classifications of pathogenicity
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
Health Risk
RS367793349
Conflicting classifications of pathogenicity
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
Health Risk
RS369425799
Conflicting classifications of pathogenicity
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
Health Risk
All Variants (76)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1597567692 | Health Risk | Pathogenic | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS2069719445 | Health Risk | Pathogenic | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS2069729948 | Health Risk | Pathogenic | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS2070011218 | Health Risk | Pathogenic | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS2070018439 | Health Risk | Pathogenic | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS2151487481 | Health Risk | Pathogenic | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS2151490072 | Health Risk | Pathogenic | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS2151492087 | Health Risk | Pathogenic | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS2151498933 | Health Risk | Pathogenic | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS2151498964 | Health Risk | Pathogenic | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS2151499042 | Health Risk | Pathogenic | T-cell lymphopenia, infantile, with or without nail dystrophy |
| RS2151499311 | Health Risk | Pathogenic | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS2508346463 | Health Risk | Pathogenic | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS2508347728 | Health Risk | Pathogenic | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS2508348438 | Health Risk | Pathogenic | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS2508348872 | Health Risk | Pathogenic | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS2508354964 | Health Risk | Pathogenic | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS2508423710 | Health Risk | Pathogenic | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS2508426674 | Health Risk | Pathogenic | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS2508427451 | Health Risk | Pathogenic | Severe combined immunodeficiency disease, Severe combined immunodeficiency disease |
| RS2508427515 | Health Risk | Pathogenic | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS2508429181 | Health Risk | Pathogenic | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS2508431005 | Health Risk | Pathogenic | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS545707585 | Health Risk | Pathogenic | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS745708044 | Health Risk | Pathogenic | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS762643472 | Health Risk | Pathogenic | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |