Skip to content
GenoLensGenoLens

SLC13A5

Chr 17p13.1

solute carrier family 13 member 5

Aliases:
NACT, INDY, mINDY
MANE:
ENST00000433363.7
OMIM: 608305 ↗NCBI: 284111 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Amelogenesis imperfecta

    BIALLELIC, autosomal or pseudoautosomal

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal

  • Early onset or syndromic epilepsy

    BIALLELIC, autosomal or pseudoautosomal

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

  • Inherited white matter disorders

    BIALLELIC, autosomal or pseudoautosomal

  • Mitochondrial disorders

    BIALLELIC, autosomal or pseudoautosomal

  • White matter disorders and cerebral calcification - narrow panel

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • undetermined early-onset epileptic encephalopathy

    0.66

  • hereditary disease

    0.47

  • genetic developmental and epileptic encephalopathy

    0.46

  • amelocerebrohypohidrotic syndrome

    0.37

  • Amelo-cerebro-hypohidrotic syndrome

    0.37

  • Hypoplastic amelogenesis imperfecta

    0.37

  • Epileptic encephalopathy

    0.33

  • alcohol drinking

    0.28

  • insomnia

    0.27

  • Intellectual disability

    0.27

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Na(+)/citrate cotransporter

High-affinity sodium/citrate cotransporter that mediates the entry of citrate into cells, which is a critical participant of biochemical pathways (PubMed:12445824, PubMed:12826022, PubMed:26324167, PubMed:26384929, PubMed:30054523, PubMed:33597751, PubMed:39622972). May function in various metabolic processes in which citrate has a critical role such as energy production (Krebs cycle), fatty acid synthesis, cholesterol synthesis, glycolysis, and gluconeogenesis (PubMed:12826022). Transports citrate into the cell in a Na(+)-dependent manner, recognizing the trivalent form of citrate (physiological pH) rather than the divalent form (PubMed:12445824, PubMed:12826022, PubMed:26324167, PubMed:26384929, PubMed:30054523, PubMed:33597751, PubMed:39622972). Can recognize succinate as a substrate, but its affinity for succinate is several fold lower than for citrate (PubMed:26324167). The stoichiometry is probably 4 Na(+) for each carboxylate, irrespective of whether the translocated substrate is divalent or trivalent, rendering the process electrogenic (PubMed:12445824, PubMed:12826022, PubMed:39622972). Involved in the regulation of citrate levels in the brain (By similarity)

Diseases associated with SLC13A5

Curated MONDO disease pages that list SLC13A5 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.