SLC25A1 Chromosome 22
Solute carrier family 25 member 1
Upload your DNA to see your personal genotypes for variants in SLC25A1.
What This Gene Does
This gene encodes a member of the mitochondrial carrier subfamily of solute carrier proteins. Members of this family include nuclear-encoded transporters that translocate small metabolites across the mitochondrial membrane. This protein regulates the movement of citrate across the inner membranes of the mitochondria. Mutations in this gene have been associated with combined D-2- and L-2-hydroxyglutaric aciduria. Pseudogenes of this gene have been identified on chromosomes 7, 11, 16, and 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
Gene Info
Gene Group
Solute carrier family 25
Locus Type
gene with protein product
Location
22q11.21
Ensembl
ENSG00000100075
Associated Conditions (10)
D
L-2-hydroxyglutaric aciduria
Inborn genetic diseases
Myasthenic syndrome
congenital
23
presynaptic
SLC25A1-related disorder
Melanoma
2-hydroxyglutaric aciduria
Key Variants
RS368647424
Conflicting classifications of pathogenicity
D, L-2-hydroxyglutaric aciduria, D
Health Risk
RS377553268
Conflicting classifications of pathogenicity
Health Risk
RS782181399
Conflicting classifications of pathogenicity
Health Risk
RS782329763
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1064794784
Likely pathogenic
Health Risk
RS1555922327
Likely pathogenic
Health Risk
RS2146144018
Likely pathogenic
Health Risk
RS2517258643
Likely pathogenic
Myasthenic syndrome, congenital, 23
Health Risk
RS2517258834
Likely pathogenic
Myasthenic syndrome, congenital, 23
Health Risk
RS2517261569
Likely pathogenic
SLC25A1-related disorder, SLC25A1-related disorder
Health Risk
RS431905510
Likely pathogenic
D, L-2-hydroxyglutaric aciduria, D
Health Risk
RS483352910
Likely pathogenic
D, L-2-hydroxyglutaric aciduria, Melanoma
Health Risk
All Variants (24)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS368647424 | Health Risk | Conflicting classifications of pathogenicity | D, L-2-hydroxyglutaric aciduria, D |
| RS377553268 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS782181399 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS782329763 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1064794784 | Health Risk | Likely pathogenic | — |
| RS1555922327 | Health Risk | Likely pathogenic | — |
| RS2146144018 | Health Risk | Likely pathogenic | — |
| RS2517258643 | Health Risk | Likely pathogenic | Myasthenic syndrome, congenital, 23 |
| RS2517258834 | Health Risk | Likely pathogenic | Myasthenic syndrome, congenital, 23 |
| RS2517261569 | Health Risk | Likely pathogenic | SLC25A1-related disorder, SLC25A1-related disorder |
| RS431905510 | Health Risk | Likely pathogenic | D, L-2-hydroxyglutaric aciduria, D |
| RS483352910 | Health Risk | Likely pathogenic | D, L-2-hydroxyglutaric aciduria, Melanoma |
| RS781925968 | Health Risk | Likely pathogenic | 2-hydroxyglutaric aciduria, 2-hydroxyglutaric aciduria |
| RS1314351369 | Health Risk | Pathogenic | — |
| RS1345028760 | Health Risk | Pathogenic | — |
| RS1555923089 | Health Risk | Pathogenic | — |
| RS2517251814 | Health Risk | Pathogenic | — |
| RS2517255245 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2517261629 | Health Risk | Pathogenic | — |
| RS781908532 | Health Risk | Pathogenic | Myasthenic syndrome, congenital, 23 |
| RS781974501 | Health Risk | Pathogenic | 2-hydroxyglutaric aciduria, Myasthenic syndrome, congenital |
| RS139862803 | Health Risk | Pathogenic/Likely pathogenic | SLC25A1-related disorder, SLC25A1-related disorder |
| RS431905509 | Health Risk | Pathogenic/Likely pathogenic | D, L-2-hydroxyglutaric aciduria, 2-hydroxyglutaric aciduria |
| RS483352911 | Health Risk | Pathogenic/Likely pathogenic | 2-hydroxyglutaric aciduria, D, L-2-hydroxyglutaric aciduria |