SLC13A3 gene

solute carrier family 13 member 3

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

High-affinity sodium-dicarboxylate cotransporter that accepts a range of substrates with 4-6 carbon atoms, including succinate, alpha-ketoglutarate and N-acetylaspartate (PubMed:30635937). The stoichiometry is probably 3 Na(+) for 1 divalent succinate.

From NCBI Gene:

  • LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE

From UniProt:

Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate (ARLIAK): An autosomal recessive disorder characterized by acute, reversible neurological deterioration during febrile illness. Patients exhibit reversible leukoencephalopathy and increased urinary excretion of alpha-ketoglutarate. [MIM:618384]

Cytogenetic Location: 20q13.12, which is the long (q) arm of chromosome 20 at position 13.12

Molecular Location: base pairs 46,557,828 to 46,684,485 on chromosome 20 (Homo sapiens Updated Annotation Release 109.20191205, GRCh38.p13) (NCBI)

Cytogenetic Location: 20q13.12, which is the long (q) arm of chromosome 20 at position 13.12
  • ARLIAK
  • NADC3
  • SDCT2