SLC25A20 Chromosome 3
Solute carrier family 25 member 20
Upload your DNA to see your personal genotypes for variants in SLC25A20.
What This Gene Does
This gene product is one of several closely related mitochondrial-membrane carrier proteins that shuttle substrates between cytosol and the intramitochondrial matrix space. This protein mediates the transport of acylcarnitines into mitochondrial matrix for their oxidation by the mitochondrial fatty acid-oxidation pathway. Mutations in this gene are associated with carnitine-acylcarnitine translocase deficiency, which can cause a variety of pathological conditions such as hypoglycemia, cardiac arrest, hepatomegaly, hepatic dysfunction and muscle weakness, and is usually lethal in new born and infants. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Solute carrier family 25
Locus Type
gene with protein product
Location
3p21.31
Ensembl
ENSG00000178537
Associated Conditions (3)
Carnitine acylcarnitine translocase deficiency
Inborn genetic diseases
SLC25A20-related disorder
Key Variants
RS1205051168
Conflicting classifications of pathogenicity
Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
Health Risk
RS143961330
Conflicting classifications of pathogenicity
Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
Health Risk
RS149174359
Conflicting classifications of pathogenicity
Carnitine acylcarnitine translocase deficiency, Inborn genetic diseases, Carnitine acylcarnitine translocase deficiency
Health Risk
RS199770033
Conflicting classifications of pathogenicity
Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
Health Risk
RS2083603903
Conflicting classifications of pathogenicity
Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
Health Risk
RS747335514
Conflicting classifications of pathogenicity
Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
Health Risk
RS754871147
Conflicting classifications of pathogenicity
Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
Health Risk
RS766966542
Conflicting classifications of pathogenicity
Carnitine acylcarnitine translocase deficiency, SLC25A20-related disorder, Carnitine acylcarnitine translocase deficiency
Health Risk
RS769684089
Conflicting classifications of pathogenicity
Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
Health Risk
RS1429229564
Likely pathogenic
Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
Health Risk
RS147540030
Likely pathogenic
Carnitine acylcarnitine translocase deficiency, SLC25A20-related disorder, Carnitine acylcarnitine translocase deficiency
Health Risk
RS2083607266
Likely pathogenic
Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
Health Risk
All Variants (72)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1205051168 | Health Risk | Conflicting classifications of pathogenicity | Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency |
| RS143961330 | Health Risk | Conflicting classifications of pathogenicity | Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency |
| RS149174359 | Health Risk | Conflicting classifications of pathogenicity | Carnitine acylcarnitine translocase deficiency, Inborn genetic diseases, Carnitine acylcarnitine translocase deficiency |
| RS199770033 | Health Risk | Conflicting classifications of pathogenicity | Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency |
| RS2083603903 | Health Risk | Conflicting classifications of pathogenicity | Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency |
| RS747335514 | Health Risk | Conflicting classifications of pathogenicity | Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency |
| RS754871147 | Health Risk | Conflicting classifications of pathogenicity | Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency |
| RS766966542 | Health Risk | Conflicting classifications of pathogenicity | Carnitine acylcarnitine translocase deficiency, SLC25A20-related disorder, Carnitine acylcarnitine translocase deficiency |
| RS769684089 | Health Risk | Conflicting classifications of pathogenicity | Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency |
| RS1429229564 | Health Risk | Likely pathogenic | Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency |
| RS147540030 | Health Risk | Likely pathogenic | Carnitine acylcarnitine translocase deficiency, SLC25A20-related disorder, Carnitine acylcarnitine translocase deficiency |
| RS2083607266 | Health Risk | Likely pathogenic | Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency |
| RS2083812807 | Health Risk | Likely pathogenic | Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency |
| RS2106637622 | Health Risk | Likely pathogenic | Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency |
| RS2470603547 | Health Risk | Likely pathogenic | Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency |
| RS2470603562 | Health Risk | Likely pathogenic | Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency |
| RS2470617928 | Health Risk | Likely pathogenic | Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency |
| RS2471004576 | Health Risk | Likely pathogenic | Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency |
| RS2471004958 | Health Risk | Likely pathogenic | Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency |
| RS2471005012 | Health Risk | Likely pathogenic | Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency |
| RS2471007483 | Health Risk | Likely pathogenic | Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency |
| RS2471007494 | Health Risk | Likely pathogenic | Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency |
| RS2471007576 | Health Risk | Likely pathogenic | Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency |
| RS2471021109 | Health Risk | Likely pathogenic | Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency |
| RS2471021176 | Health Risk | Likely pathogenic | Carnitine acylcarnitine translocase deficiency, SLC25A20-related disorder, Carnitine acylcarnitine translocase deficiency |
| RS778739484 | Health Risk | Likely pathogenic | Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency |
| RS970037429 | Health Risk | Likely pathogenic | Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency |
| RS1481760544 | Health Risk | Pathogenic | Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency |
| RS151340616 | Health Risk | Pathogenic | Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency |
| RS1553684897 | Health Risk | Pathogenic | Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency |
| RS1553686314 | Health Risk | Pathogenic | Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency |
| RS1553686321 | Health Risk | Pathogenic | Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency |
| RS1553686345 | Health Risk | Pathogenic | — |
| RS1575989549 | Health Risk | Pathogenic | Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency |
| RS2083881207 | Health Risk | Pathogenic | Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency |
| RS2083881514 | Health Risk | Pathogenic | Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency |
| RS2106672523 | Health Risk | Pathogenic | Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency |
| RS2470610340 | Health Risk | Pathogenic | Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency |
| RS2470610350 | Health Risk | Pathogenic | Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency |
| RS2471003768 | Health Risk | Pathogenic | Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency |
| RS2471003978 | Health Risk | Pathogenic | Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency |
| RS2471007479 | Health Risk | Pathogenic | Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency |
| RS2471021115 | Health Risk | Pathogenic | Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency |
| RS28934589 | Health Risk | Pathogenic | Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency |
| RS541208710 | Health Risk | Pathogenic | Carnitine acylcarnitine translocase deficiency, SLC25A20-related disorder, Carnitine acylcarnitine translocase deficiency |
| RS587776759 | Health Risk | Pathogenic | Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency |
| RS587776760 | Health Risk | Pathogenic | Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency |
| RS587777286 | Health Risk | Pathogenic | Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency |
| RS587777287 | Health Risk | Pathogenic | Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency |
| RS745490594 | Health Risk | Pathogenic | Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency |