SLC13A5

Chr 17AR

solute carrier family 13 member 5

Also known as: DEE25, EIEE25, INDY, NACT, mIndy

NCBI Gene: 284111 ENSG00000141485 UniProt: Q86YT5 OMIM: 608305

This protein is a sodium-dependent citrate cotransporter that regulates cellular metabolic processes by transporting citrate across cell membranes. Biallelic mutations cause developmental and epileptic encephalopathy 25 with amelogenesis imperfecta, characterized by early infantile epileptic encephalopathy and defective tooth enamel formation. The condition follows autosomal recessive inheritance with pathogenicity resulting from loss of protein function.

OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene encodes a protein belonging to the solute carrier family 13 group of proteins. This family member is a sodium-dependent citrate cotransporter that may regulate metabolic processes. Mutations in this gene cause early infantile epileptic encephalopathy 25. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]

OMIM ResearchGenerating clinical summary…

LOFmechanismARLOEUF 0.671 OMIM phenotype

Clinical Summary— SLC13A5

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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Clinical Trials

3 active or recruiting trials — potential therapeutic options may be available

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.67LOEUF

pLI 0.001

Z-score 2.83

OE 0.39 (0.24–0.67)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

1.14Z-score

OE missense 0.83 (0.75–0.91)

288 obs / 347.9 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.39 (0.24–0.67)

0≤0.351.4

Missense OE?0.83 (0.75–0.91)

0≤0.61.4

Synonymous OE?1.02

0≤1.21.6

LoF obs/exp: 10 / 25.4Missense obs/exp: 288 / 347.9Syn Z: -0.16

Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗

definitiveSLC13A5-related epileptic encephalopathy with seizure onset in the first days of lifeLOFAR

This gene — mechanism propensity

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

0.85top 10%

GOF

0.77top 25%

LOF

0.1895th %ile

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.