SLC25A25 Chromosome 9
Solute carrier family 25 member 25
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What This Gene Does
The protein encoded by this gene belongs to the family of calcium-binding mitochondrial carriers, with a characteristic mitochondrial carrier domain at the C-terminus. These proteins are found in the inner membranes of mitochondria, and function as transport proteins. They shuttle metabolites, nucleotides and cofactors through the mitochondrial membrane and thereby connect and/or regulate cytoplasm and matrix functions. This protein may function as an ATP-Mg/Pi carrier that mediates the transport of Mg-ATP in exchange for phosphate, and likely responsible for the net uptake or efflux of adenine nucleotides into or from the mitochondria. Alternatively spliced transcript variants encoding different isoforms with a common C-terminus but variable N-termini have been described for this gene. [provided by RefSeq, Jul 2012]
Gene Info
Gene Group
"EF-hand domain containing|Solute carrier family 25"
Locus Type
gene with protein product
Location
9q34.11
Ensembl
ENSG00000148339
Associated Conditions (1)
Nephrolithiasis
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140777921 | Health Risk | Pathogenic | Nephrolithiasis, Nephrolithiasis |