FLG Chromosome 1
Filaggrin
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What This Gene Does
The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.[provided by RefSeq, Dec 2009]
Gene Info
Gene Group
"EF-hand domain containing|S100 fused type protein family"
Locus Type
gene with protein product
Location
1q21.3
Ensembl
ENSG00000143631
Associated Conditions (18)
Ichthyosis vulgaris
Dermatitis
atopic
2
FLG-related disorder
Inborn genetic diseases
Palmoplantar keratodermas
Ichthyosis and erythrokeratoderma
Autosomal recessive congenital ichthyosis
Congenital portosystemic shunt
susceptibility to
Eczematoid dermatitis
Autosomal dominant ichthyosis vulgaris
Autosomal recessive nonsyndromic hearing loss 1A
8 conditions
See cases
Incidental Discovery
Atopic eczema
Key Variants
RS115746363
Conflicting classifications of pathogenicity
Ichthyosis vulgaris, Dermatitis, atopic
Health Risk
RS138880214
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139153630
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139432673
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS140424742
Conflicting classifications of pathogenicity
Ichthyosis vulgaris, Inborn genetic diseases, Ichthyosis vulgaris
Health Risk
RS140723547
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141368651
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141784184
Conflicting classifications of pathogenicity
Ichthyosis vulgaris, Ichthyosis vulgaris
Health Risk
RS142456327
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142592778
Conflicting classifications of pathogenicity
Inborn genetic diseases, Ichthyosis vulgaris, Inborn genetic diseases
Health Risk
RS143418984
Conflicting classifications of pathogenicity
Ichthyosis vulgaris, Autosomal recessive congenital ichthyosis, Ichthyosis and erythrokeratoderma
Health Risk
RS144484740
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (211)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS756254959 | Health Risk | Pathogenic/Likely pathogenic | Ichthyosis vulgaris, Dermatitis, atopic |
| RS760831749 | Health Risk | Pathogenic/Likely pathogenic | Ichthyosis vulgaris, Ichthyosis vulgaris |
| RS761519693 | Health Risk | Pathogenic/Likely pathogenic | Ichthyosis vulgaris, Ichthyosis vulgaris |
| RS761877421 | Health Risk | Pathogenic/Likely pathogenic | FLG-related disorder, FLG-related disorder |
| RS763225328 | Health Risk | Pathogenic/Likely pathogenic | Ichthyosis vulgaris, Dermatitis, atopic |
| RS767261854 | Health Risk | Pathogenic/Likely pathogenic | Dermatitis, atopic, 2 |
| RS772007167 | Health Risk | Pathogenic/Likely pathogenic | Dermatitis, atopic, 2 |
| RS774362740 | Health Risk | Pathogenic/Likely pathogenic | Ichthyosis vulgaris, Ichthyosis vulgaris |
| RS775253166 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS775716153 | Health Risk | Pathogenic/Likely pathogenic | Ichthyosis vulgaris, Ichthyosis vulgaris |
| RS777181377 | Health Risk | Pathogenic/Likely pathogenic | Ichthyosis vulgaris, Dermatitis, atopic |