SLC25A10 Chromosome 17
Solute carrier family 25 member 10
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What This Gene Does
This gene encodes a member of a family of proteins that translocate small metabolites across the mitochondrial membrane. The encoded protein exchanges dicarboxylates, such as malate and succinate, for phosphate, sulfate, and other small molecules, thereby providing substrates for metabolic processes including the Krebs cycle and fatty acid synthesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]
Gene Info
Gene Group
Solute carrier family 25
Locus Type
gene with protein product
Location
17q25.3
Ensembl
ENSG00000183048
Associated Conditions (3)
Mitochondrial complex I deficiency
Mitochondrial DNA depletion syndrome 19
See cases
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS114621664 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1555703272 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, Mitochondrial DNA depletion syndrome 19, Mitochondrial complex I deficiency |
| RS762087308 | Health Risk | Likely pathogenic | See cases, See cases |