SLC25A24 Chromosome 1
Solute carrier family 25 member 24
Upload your DNA to see your personal genotypes for variants in SLC25A24.
What This Gene Does
This gene encodes a carrier protein that transports ATP-Mg exchanging it for phosphate. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
Gene Info
Gene Group
"EF-hand domain containing|Solute carrier family 25"
Locus Type
gene with protein product
Location
1p13.3
Ensembl
ENSG00000085491
Associated Conditions (4)
Inborn genetic diseases
Dementia
Bilateral tonic-clonic seizure
Fontaine progeroid syndrome
Key Variants
RS145479430
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149281325
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS775932085
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1571285932
Likely pathogenic
Dementia, Bilateral tonic-clonic seizure, Dementia
Health Risk
RS1553253989
Pathogenic
Fontaine progeroid syndrome, Fontaine progeroid syndrome
Health Risk
RS1553253990
Pathogenic
Fontaine progeroid syndrome, Fontaine progeroid syndrome
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS145479430 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS149281325 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS775932085 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1571285932 | Health Risk | Likely pathogenic | Dementia, Bilateral tonic-clonic seizure, Dementia |
| RS1553253989 | Health Risk | Pathogenic | Fontaine progeroid syndrome, Fontaine progeroid syndrome |
| RS1553253990 | Health Risk | Pathogenic | Fontaine progeroid syndrome, Fontaine progeroid syndrome |