SLC25A42 Chromosome 19
Solute carrier family 25 member 42
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What This Gene Does
This gene encodes a solute carrier family 25 protein. Solute carrier family 25 proteins are localized to mitochondria and play critical roles in the transport of molecules across the inner mitochondrial membrane. The encoded protein is a mitochondrial transporter for coenzyme A (CoA) and adenosine 3',5'-diphosphate. [provided by RefSeq, Feb 2012]
Gene Info
Gene Group
Solute carrier family 25
Locus Type
gene with protein product
Location
19p13.11
Ensembl
ENSG00000181035
Associated Conditions (7)
SLC25A42-related mitochondrial encephalomyopathy
Inborn genetic diseases
Metabolic crises
recurrent
with variable encephalomyopathic features and neurologic regression
Inborn mitochondrial myopathy
SLC25A42-related mitochondrial disorder
Key Variants
RS1568523935
Likely pathogenic
SLC25A42-related mitochondrial encephalomyopathy, SLC25A42-related mitochondrial encephalomyopathy
Health Risk
RS2514112962
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1247424432
Pathogenic
Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression
Health Risk
RS864321624
Pathogenic/Likely pathogenic
Inborn mitochondrial myopathy, Metabolic crises, recurrent
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1568523935 | Health Risk | Likely pathogenic | SLC25A42-related mitochondrial encephalomyopathy, SLC25A42-related mitochondrial encephalomyopathy |
| RS2514112962 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1247424432 | Health Risk | Pathogenic | Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression |
| RS864321624 | Health Risk | Pathogenic/Likely pathogenic | Inborn mitochondrial myopathy, Metabolic crises, recurrent |