SLC24A4 Chromosome 14
Solute carrier family 24 member 4
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What This Gene Does
This gene encodes a sodium/potassium/calcium exchange protein. The encoded antiporter transports one calcium and one potassium ion in exchange for four sodium ions and has been implicated in amelogenesis and enamel maturation. Certain variants in this gene have been associated with skin, hair, and eye pigmentation, while other variants have been identified in people with hypomaturation-type amelogenesis imperfecta. [provided by RefSeq, Nov 2023]
Gene Info
Gene Group
Solute carrier family 24
Locus Type
gene with protein product
Location
14q32.12
Ensembl
ENSG00000140090
Associated Conditions (5)
SKIN/HAIR/EYE PIGMENTATION 6
BLOND/BROWN HAIR
Inborn genetic diseases
Amelogenesis imperfecta
Amelogenesis imperfecta hypomaturation type 2A5
Key Variants
RS12896399
association
SKIN/HAIR/EYE PIGMENTATION 6, BLOND/BROWN HAIR, SKIN/HAIR/EYE PIGMENTATION 6
Health Risk
RS143075344
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141131742
Pathogenic
Amelogenesis imperfecta, Amelogenesis imperfecta
Health Risk
RS1595312054
Pathogenic
Amelogenesis imperfecta hypomaturation type 2A5, Amelogenesis imperfecta hypomaturation type 2A5
Health Risk
RS587777535
Pathogenic
Amelogenesis imperfecta hypomaturation type 2A5, Amelogenesis imperfecta hypomaturation type 2A5
Health Risk
RS587777536
Pathogenic
Amelogenesis imperfecta hypomaturation type 2A5, Amelogenesis imperfecta hypomaturation type 2A5
Health Risk
RS587777537
Pathogenic
Amelogenesis imperfecta hypomaturation type 2A5, Amelogenesis imperfecta hypomaturation type 2A5
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS12896399 | Health Risk | association | SKIN/HAIR/EYE PIGMENTATION 6, BLOND/BROWN HAIR, SKIN/HAIR/EYE PIGMENTATION 6 |
| RS143075344 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS141131742 | Health Risk | Pathogenic | Amelogenesis imperfecta, Amelogenesis imperfecta |
| RS1595312054 | Health Risk | Pathogenic | Amelogenesis imperfecta hypomaturation type 2A5, Amelogenesis imperfecta hypomaturation type 2A5 |
| RS587777535 | Health Risk | Pathogenic | Amelogenesis imperfecta hypomaturation type 2A5, Amelogenesis imperfecta hypomaturation type 2A5 |
| RS587777536 | Health Risk | Pathogenic | Amelogenesis imperfecta hypomaturation type 2A5, Amelogenesis imperfecta hypomaturation type 2A5 |
| RS587777537 | Health Risk | Pathogenic | Amelogenesis imperfecta hypomaturation type 2A5, Amelogenesis imperfecta hypomaturation type 2A5 |