SLC25A3 Chromosome 12
Solute carrier family 25 member 3
Upload your DNA to see your personal genotypes for variants in SLC25A3.
What This Gene Does
The protein encoded by this gene catalyzes the transport of phosphate into the mitochondrial matrix, either by proton cotransport or in exchange for hydroxyl ions. The protein contains three related segments arranged in tandem which are related to those found in other characterized members of the mitochondrial carrier family. Both the N-terminal and C-terminal regions of this protein protrude toward the cytosol. Multiple alternatively spliced transcript variants have been isolated. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Small nucleolar RNA protein coding host genes|Solute carrier family 25"
Locus Type
gene with protein product
Location
12q23.1
Ensembl
ENSG00000075415
Associated Conditions (2)
Cardiomyopathy-hypotonia-lactic acidosis syndrome
SLC25A3-related disorder
Key Variants
RS148667033
Conflicting classifications of pathogenicity
Cardiomyopathy-hypotonia-lactic acidosis syndrome, Cardiomyopathy-hypotonia-lactic acidosis syndrome
Health Risk
RS370367708
Conflicting classifications of pathogenicity
Cardiomyopathy-hypotonia-lactic acidosis syndrome, SLC25A3-related disorder, Cardiomyopathy-hypotonia-lactic acidosis syndrome
Health Risk
RS750003586
Conflicting classifications of pathogenicity
Health Risk
RS750516275
Conflicting classifications of pathogenicity
Cardiomyopathy-hypotonia-lactic acidosis syndrome, Cardiomyopathy-hypotonia-lactic acidosis syndrome
Health Risk
RS774087747
Conflicting classifications of pathogenicity
Cardiomyopathy-hypotonia-lactic acidosis syndrome, Cardiomyopathy-hypotonia-lactic acidosis syndrome
Health Risk
RS972857493
Conflicting classifications of pathogenicity
Cardiomyopathy-hypotonia-lactic acidosis syndrome, Cardiomyopathy-hypotonia-lactic acidosis syndrome
Health Risk
RS2153287079
Likely pathogenic
Health Risk
RS2548526526
Likely pathogenic
Health Risk
RS2548528154
Likely pathogenic
Health Risk
RS104894375
Pathogenic
Cardiomyopathy-hypotonia-lactic acidosis syndrome, Cardiomyopathy-hypotonia-lactic acidosis syndrome
Health Risk
RS2097595072
Pathogenic
Cardiomyopathy-hypotonia-lactic acidosis syndrome, Cardiomyopathy-hypotonia-lactic acidosis syndrome
Health Risk
RS2097597579
Pathogenic
Cardiomyopathy-hypotonia-lactic acidosis syndrome, Cardiomyopathy-hypotonia-lactic acidosis syndrome
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS148667033 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy-hypotonia-lactic acidosis syndrome, Cardiomyopathy-hypotonia-lactic acidosis syndrome |
| RS370367708 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy-hypotonia-lactic acidosis syndrome, SLC25A3-related disorder, Cardiomyopathy-hypotonia-lactic acidosis syndrome |
| RS750003586 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS750516275 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy-hypotonia-lactic acidosis syndrome, Cardiomyopathy-hypotonia-lactic acidosis syndrome |
| RS774087747 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy-hypotonia-lactic acidosis syndrome, Cardiomyopathy-hypotonia-lactic acidosis syndrome |
| RS972857493 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy-hypotonia-lactic acidosis syndrome, Cardiomyopathy-hypotonia-lactic acidosis syndrome |
| RS2153287079 | Health Risk | Likely pathogenic | — |
| RS2548526526 | Health Risk | Likely pathogenic | — |
| RS2548528154 | Health Risk | Likely pathogenic | — |
| RS104894375 | Health Risk | Pathogenic | Cardiomyopathy-hypotonia-lactic acidosis syndrome, Cardiomyopathy-hypotonia-lactic acidosis syndrome |
| RS2097595072 | Health Risk | Pathogenic | Cardiomyopathy-hypotonia-lactic acidosis syndrome, Cardiomyopathy-hypotonia-lactic acidosis syndrome |
| RS2097597579 | Health Risk | Pathogenic | Cardiomyopathy-hypotonia-lactic acidosis syndrome, Cardiomyopathy-hypotonia-lactic acidosis syndrome |
| RS2153283460 | Health Risk | Pathogenic | — |
| RS996812877 | Health Risk | Pathogenic | — |
| RS745305932 | Health Risk | Pathogenic/Likely pathogenic | Cardiomyopathy-hypotonia-lactic acidosis syndrome, Cardiomyopathy-hypotonia-lactic acidosis syndrome |