SLC13A3 Chromosome 20
Solute carrier family 13 member 3
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What This Gene Does
Mammalian sodium-dicarboxylate cotransporters transport succinate and other Krebs cycle intermediates. They fall into 2 categories based on their substrate affinity: low affinity and high affinity. Both the low- and high-affinity transporters play an important role in the handling of citrate by the kidneys. The protein encoded by this gene represents the high-affinity form. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, although the full-length nature of some of them have not been characterized yet. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Solute carrier family 13
Locus Type
gene with protein product
Location
20q13.12
Ensembl
ENSG00000158296
Associated Conditions (3)
Leukoencephalopathy
acute reversible
with increased urinary alpha-ketoglutarate
Key Variants
RS199961976
Conflicting classifications of pathogenicity
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
Health Risk
RS749426418
Conflicting classifications of pathogenicity
Health Risk
RS763705904
Conflicting classifications of pathogenicity
Health Risk
RS746862161
Likely pathogenic
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
Health Risk
RS1568904872
Pathogenic
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
Health Risk
RS1568927501
Pathogenic
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199961976 | Health Risk | Conflicting classifications of pathogenicity | Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate |
| RS749426418 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS763705904 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS746862161 | Health Risk | Likely pathogenic | Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate |
| RS1568904872 | Health Risk | Pathogenic | Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate |
| RS1568927501 | Health Risk | Pathogenic | Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate |