SLC13A3 Chromosome 20

Solute carrier family 13 member 3
6 variants 6 Health Risk

Upload your DNA to see your personal genotypes for variants in SLC13A3.

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
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
Sign Up to Analyze Your DNA Log In