KDF1 Chromosome 1
Keratinocyte differentiation factor 1
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What This Gene Does
Predicted to be involved in several processes, including positive regulation of epidermal cell differentiation; regulation of epidermal cell division; and skin epidermis development. Predicted to act upstream of or within several processes, including keratinocyte development; negative regulation of keratinocyte proliferation; and protein stabilization. Predicted to be located in cytoplasm. Predicted to be active in cell junction. Implicated in ectodermal dysplasia 12. [provided by Alliance of Genome Resources, Jul 2025]
Associated Conditions (4)
Inborn genetic diseases
Ectodermal dysplasia 12
hypohidrotic/hair/tooth/nail type
Hypodontia
Key Variants
RS145055719
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS145994096
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS148853297
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS368075916
Conflicting classifications of pathogenicity
Inborn genetic diseases, Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type
Health Risk
RS2522716301
Likely pathogenic
Hypodontia, Hypodontia
Health Risk
RS1057519508
Pathogenic
Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type, Ectodermal dysplasia 12
Health Risk
RS2522715819
Pathogenic
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS145055719 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS145994096 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS148853297 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS368075916 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type |
| RS2522716301 | Health Risk | Likely pathogenic | Hypodontia, Hypodontia |
| RS1057519508 | Health Risk | Pathogenic | Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type, Ectodermal dysplasia 12 |
| RS2522715819 | Health Risk | Pathogenic | — |