SLC25A11 Chromosome 17
Solute carrier family 25 member 11
Upload your DNA to see your personal genotypes for variants in SLC25A11.
What This Gene Does
The oxoglutarate/malate carrier transports 2-oxoglutarate across the inner membranes of mitochondria in an electroneutral exchange for malate or other dicarboxylic acids (summary by Iacobazzi et al., 1992 [PubMed 1457818]).[supplied by OMIM, Jan 2011]
Gene Info
Gene Group
Solute carrier family 25
Locus Type
gene with protein product
Location
17p13.2
Ensembl
ENSG00000108528
Associated Conditions (1)
Pheochromocytoma/paraganglioma syndrome 6
Key Variants
RS147584261
Conflicting classifications of pathogenicity
Pheochromocytoma/paraganglioma syndrome 6, Pheochromocytoma/paraganglioma syndrome 6
Health Risk
RS201961261
Conflicting classifications of pathogenicity
Health Risk
RS372521210
Conflicting classifications of pathogenicity
Health Risk
RS1203876038
Pathogenic
Pheochromocytoma/paraganglioma syndrome 6, Pheochromocytoma/paraganglioma syndrome 6
Health Risk
RS1374026152
Pathogenic
Pheochromocytoma/paraganglioma syndrome 6, Pheochromocytoma/paraganglioma syndrome 6
Health Risk
RS1567650859
Pathogenic
Pheochromocytoma/paraganglioma syndrome 6, Pheochromocytoma/paraganglioma syndrome 6
Health Risk
RS1567650874
Pathogenic
Pheochromocytoma/paraganglioma syndrome 6, Pheochromocytoma/paraganglioma syndrome 6
Health Risk
RS1567651815
Pathogenic
Pheochromocytoma/paraganglioma syndrome 6, Pheochromocytoma/paraganglioma syndrome 6
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS147584261 | Health Risk | Conflicting classifications of pathogenicity | Pheochromocytoma/paraganglioma syndrome 6, Pheochromocytoma/paraganglioma syndrome 6 |
| RS201961261 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS372521210 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1203876038 | Health Risk | Pathogenic | Pheochromocytoma/paraganglioma syndrome 6, Pheochromocytoma/paraganglioma syndrome 6 |
| RS1374026152 | Health Risk | Pathogenic | Pheochromocytoma/paraganglioma syndrome 6, Pheochromocytoma/paraganglioma syndrome 6 |
| RS1567650859 | Health Risk | Pathogenic | Pheochromocytoma/paraganglioma syndrome 6, Pheochromocytoma/paraganglioma syndrome 6 |
| RS1567650874 | Health Risk | Pathogenic | Pheochromocytoma/paraganglioma syndrome 6, Pheochromocytoma/paraganglioma syndrome 6 |
| RS1567651815 | Health Risk | Pathogenic | Pheochromocytoma/paraganglioma syndrome 6, Pheochromocytoma/paraganglioma syndrome 6 |