SLC25A25
solute carrier family 25 member 25
Summary
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]
Known Variants20 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2539691169 | 9:130,830,786 | G/A | — | uncertain significance |
| rs10987861 | 9:130,834,950 | A/G | regulatory region variant | — |
| rs144943583 | 9:130,854,815 | G/C | intron variant | — |
| rs201454954 | 9:130,863,466 | G/A | — | uncertain significance |
| rs2539748287 | 9:130,863,611 | A/T | — | uncertain significance |
| rs991058347 | 9:130,864,363 | C/T | — | uncertain significance |
| rs752496326 | 9:130,864,651 | T/C | — | uncertain significance |
| rs752115914 | 9:130,865,979 | A/G | — | uncertain significance |
| rs150336698 | 9:130,868,020 | C/T | — | uncertain significance |
| rs370591194 | 9:130,868,092 | C/T | — | uncertain significance |
| rs146433346 | 9:130,868,108 | A/G | — | uncertain significance |
| rs770459495 | 9:130,868,436 | G/A | — | uncertain significance |
| rs575643847 | 9:130,868,474 | G/A | — | uncertain significance |
| rs140777921 | 9:130,868,670 | G/C | — | pathogenic |
| rs754304263 | 9:130,868,716 | G/C | — | uncertain significance |
| rs1588796578 | 9:130,868,720 | T/G | — | uncertain significance |
| rs767983433 | 9:130,869,452 | G/A | — | uncertain significance |
| rs150859583 | 9:130,869,552 | C/T | — | likely benign |
| rs16930267 | 9:130,869,558 | G/A | — | benign |
| rs2539768238 | 9:130,869,716 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.