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Primary topic: SLC22A5 gene cellular energy production

SLC22A5 Gene and Metabolism: What It Can Mean in a Pathway Report

SLC22A5 is tracked because it connects to fatty-acid oxidation, mitochondrial transport, organic-acid handling, or high-demand energy metabolism. The current evidence index links this gene to Mitochondrial energy with 5 SNPs and 5 curated claims.

What is the SLC22A5 gene?

OCTN2 plasma-membrane carnitine transporter supporting cellular carnitine availability for mitochondrial fatty-acid oxidation.

How SLC22A5 affects metabolism

When SLC22A5-related function is shifted, the practical effect is interpreted through fatty-acid oxidation, mitochondrial transport, organic-acid handling, or high-demand energy metabolism. This does not mean the pathway is active or impaired right now; it means the gene can help prioritize what to check next.

What happens when SLC22A5 is altered

Altered SLC22A5 signal should be treated as a DNA-based tendency, not a diagnosis. 5 claims currently pass the report-use gate. The useful question is whether symptoms, labs, and lifestyle context line up with the pathway signal.

Curated SNP evidence for SLC22A5

These SNPs come from the approved study-level evidence model. Each claim is scored from curated study rows, then gated before it can influence pathway scoring.

Mitochondrial energy

Evidence-backed report connection

SLC22A5 currently has 5 curated SNPs, 5 claim-level scores, and 5 claims eligible for pathway scoring.

Open the sample report
rs121908886SLC22A5 c.844C>T / Arg282Ter1 claims · 2 study rows

transport activity · TT or compound-heterozygous SLC22A5 deficiency context

OCTN2 carnitine transport activity tendency

Strong

rs121908886 T / SLC22A5 c.844C>T / p.Arg282Ter is associated with lower OCTN2 carnitine transport activity and lower systemic carnitine availability in recessive or compound-heterozygous primary carnitine-deficiency contexts.

SLC22A5 rs121908886 T is staged as a primary carnitine-deficiency nonsense allele affecting OCTN2 carnitine transport.

Likely effectLower transport signal
Signal sizeModerate signal
Evidence supportStrong support
Report useIncluded in pathway scoring
Show study evidence
ClinVar Variation 6416clinical curation · directClinVar maps rs121908886 to SLC22A5 c.844C>T / p.Arg282Ter and classifies the renal carnitine transport defect record as pathogenic, with literature-linked submissions supporting primary carnitine-deficiency context.GeneReviews Primary Carnitine Deficiencyclinical curation · directGeneReviews supports SLC22A5/OCTN2 loss as the cause of primary carnitine deficiency, with low free carnitine on newborn screening and plasma carnitine monitoring as direct biomarker anchors.
rs202088921SLC22A5 c.136C>T / Pro46Ser1 claims · 2 study rows

transport activity · TT

OCTN2 carnitine transport tendency

Strong

rs202088921 TT / SLC22A5 c.136C>T p.Pro46Ser is associated with lower OCTN2 carnitine transport activity tendency.

SLC22A5 rs202088921 T is staged as a recessive primary carnitine-deficiency allele affecting OCTN2 carnitine transport.

Likely effectLower transport signal
Signal sizeModerate signal
Evidence supportStrong support
Report useIncluded in pathway scoring
Show study evidence
ClinVar RCV000173299clinical curation · directThe checked ClinVar record maps rs202088921 to SLC22A5 c.136C>T / p.Pro46Ser and classifies it as pathogenic for primary carnitine deficiency, with cited functional evidence for reduced OCTN2 membrane delivery and carnitine transport activity.MedlinePlus SLC22A5clinical curation · directMedlinePlus supports SLC22A5 as the OCTN2 transporter required to move carnitine into cells, tying pathogenic SLC22A5 loss to impaired cellular carnitine availability for fatty-acid oxidation support.
rs57262206SLC22A5 c.-149G>A1 claims · 2 study rows

transport activity · AA or compound-heterozygous SLC22A5 deficiency context

OCTN2 carnitine transport activity tendency

Strong

rs57262206 A / SLC22A5 c.-149G>A is associated with lower OCTN2 carnitine transport activity tendency in recessive or compound-heterozygous deficiency contexts.

SLC22A5 rs57262206 A is staged as a recessive primary carnitine-deficiency allele affecting OCTN2 carnitine transport.

Likely effectLower transport signal
Signal sizeModerate signal
Evidence supportStrong support
Report useIncluded in pathway scoring
Show study evidence
ClinVar RCV000022286clinical curation · directClinVar maps rs57262206 to SLC22A5 c.-149G>A and classifies it as pathogenic for primary carnitine deficiency, with submission text citing reduced OCTN2 protein and carnitine transport activity.PMID 31187905functional assay · directThe checked PubMed-indexed functional report supports SLC22A5 c.-149G>A as reducing OCTN2 protein abundance and carnitine transport activity.
rs72552725SLC22A5 c.95A>G / Asn32Ser1 claims · 2 study rows

transport activity · GG or compound-heterozygous SLC22A5 deficiency context

OCTN2 carnitine transport activity tendency

Strong

rs72552725 G / SLC22A5 c.95A>G / p.Asn32Ser is associated with lower OCTN2 carnitine transport activity and lower systemic carnitine availability in recessive or compound-heterozygous primary carnitine-deficiency contexts.

SLC22A5 rs72552725 G is staged as a pathogenic primary carnitine-deficiency allele affecting OCTN2 carnitine transport.

Likely effectLower transport signal
Signal sizeModerate signal
Evidence supportStrong support
Report useIncluded in pathway scoring
Show study evidence
ClinVar Variation 25355clinical curation · directClinVar maps rs72552725 to SLC22A5 c.95A>G / p.Asn32Ser, classifies it as pathogenic for renal carnitine transport defect, and includes submitter evidence describing markedly impaired carnitine transport activity in homozygous or affected contexts.MedlinePlus SLC22A5clinical curation · directMedlinePlus describes SLC22A5 as the OCTN2 carnitine transporter required for cellular carnitine uptake and renal carnitine reabsorption; pathogenic changes cause systemic primary carnitine deficiency with low carnitine availability.
rs72552732SLC22A5 c.1319C>T / Thr440Met1 claims · 2 study rows

transport activity · TT or compound-heterozygous SLC22A5 deficiency context

OCTN2 carnitine transport activity tendency

Strong

rs72552732 T / SLC22A5 c.1319C>T / p.Thr440Met is associated with lower OCTN2 carnitine transport activity and lower systemic carnitine availability in recessive or compound-heterozygous primary carnitine-deficiency contexts.

SLC22A5 rs72552732 T is staged as a primary carnitine-deficiency allele affecting OCTN2 carnitine transport.

Likely effectLower transport signal
Signal sizeModerate signal
Evidence supportStrong support
Report useIncluded in pathway scoring
Show study evidence
ClinVar Variation 25416clinical curation · directClinVar maps rs72552732 to SLC22A5 c.1319C>T / p.Thr440Met and classifies the variant in primary carnitine deficiency records.GeneReviews Primary Carnitine Deficiencyclinical curation · directGeneReviews supports SLC22A5/OCTN2 loss as the cause of primary carnitine deficiency, with urinary carnitine wasting, low plasma carnitine, reduced intracellular carnitine accumulation, and impaired fatty-acid oxidation support.

Common symptoms people report

  • low energy under fasting, illness, or exercise
  • slow recovery after exertion
  • fatigue that feels out of proportion to workload

Biomarkers to validate

CBC, ferritin, and thyroid context

Rules out common non-DNA explanations for low energy.

Glucose and HbA1c

Checks whether fuel handling is adding pressure.

Organic acids or acylcarnitines when available

Adds more specific mitochondrial and fatty-acid oxidation context.

Where DNA analysis helps

DNA helps decide whether SLC22A5 deserves attention inside the broader Mitochondrial energy pathway. It is most useful when combined with biomarkers instead of used as a standalone answer.

Example interpretation

SLC22A5 may add context to fatty-acid oxidation, mitochondrial transport, organic-acid handling, or high-demand energy metabolism, especially when its SNP evidence lines up with other genes in the same pathway.

Suggested validation: CBC, ferritin, and thyroid context.

What to do next

  • Review the Mitochondrial energy pathway result before interpreting SLC22A5 on its own.
  • Use relevant biomarkers to confirm whether this DNA tendency is visible in current biology.
  • Treat supplement or nutrition decisions as follow-up steps only after the pattern fits symptoms or labs.

Upload your DNA file and receive a structured metabolic pathway analysis with prioritized insights and suggested validation markers.

Get My DNA Report

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