SLC25A26 Chromosome 3
Solute carrier family 25 member 26
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What This Gene Does
This gene is a member of the mitochondrial carrier family which includes nuclear-encoded transporters localized on the inner mitochondrial membranes. Members of the family transport important small molecules across the mitochondrial inner membrane. This protein is involved in the transport of S-adenosylmethionine (SAM) into the mitochondria. Mutations in this gene are associated with combined oxidative phosphorylation deficiency 28. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2017]
Gene Info
Gene Group
Solute carrier family 25
Locus Type
gene with protein product
Location
3p14.1
Ensembl
ENSG00000144741
Associated Conditions (2)
Inborn genetic diseases
Combined oxidative phosphorylation deficiency 28
Key Variants
RS142536729
Conflicting classifications of pathogenicity
Health Risk
RS1483149274
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1316228094
Likely pathogenic
Combined oxidative phosphorylation deficiency 28, Combined oxidative phosphorylation deficiency 28
Health Risk
RS781798317
Likely pathogenic
Combined oxidative phosphorylation deficiency 28, Combined oxidative phosphorylation deficiency 28
Health Risk
RS755461919
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS869025313
Pathogenic
Combined oxidative phosphorylation deficiency 28, Combined oxidative phosphorylation deficiency 28
Health Risk
RS869025314
Pathogenic
Combined oxidative phosphorylation deficiency 28, Combined oxidative phosphorylation deficiency 28
Health Risk
RS869025315
Pathogenic
Combined oxidative phosphorylation deficiency 28, Combined oxidative phosphorylation deficiency 28
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142536729 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1483149274 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1316228094 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation deficiency 28, Combined oxidative phosphorylation deficiency 28 |
| RS781798317 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation deficiency 28, Combined oxidative phosphorylation deficiency 28 |
| RS755461919 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS869025313 | Health Risk | Pathogenic | Combined oxidative phosphorylation deficiency 28, Combined oxidative phosphorylation deficiency 28 |
| RS869025314 | Health Risk | Pathogenic | Combined oxidative phosphorylation deficiency 28, Combined oxidative phosphorylation deficiency 28 |
| RS869025315 | Health Risk | Pathogenic | Combined oxidative phosphorylation deficiency 28, Combined oxidative phosphorylation deficiency 28 |