SLC25A20

Chr 3AR

solute carrier family 25 member 20

Also known as: CAC, CACT

NCBI Gene: 788 ENSG00000178537 UniProt: O43772 OMIM: 613698

The protein mediates the transport of acylcarnitines across the mitochondrial inner membrane, enabling fatty acid beta-oxidation by translocating fatty acids into the mitochondrial matrix where they can be metabolized. Mutations cause carnitine-acylcarnitine translocase deficiency, an autosomal recessive disorder presenting in newborns and infants with hypoglycemia, cardiac arrest, hepatomegaly, hepatic dysfunction, and muscle weakness. This condition is typically lethal in the neonatal period and affects multiple organ systems dependent on fatty acid oxidation for energy.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene product is one of several closely related mitochondrial-membrane carrier proteins that shuttle substrates between cytosol and the intramitochondrial matrix space. This protein mediates the transport of acylcarnitines into mitochondrial matrix for their oxidation by the mitochondrial fatty acid-oxidation pathway. Mutations in this gene are associated with carnitine-acylcarnitine translocase deficiency, which can cause a variety of pathological conditions such as hypoglycemia, cardiac arrest, hepatomegaly, hepatic dysfunction and muscle weakness, and is usually lethal in new born and infants. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

LOFmechanismARLOEUF 1.171 OMIM phenotype

Clinical Summary— SLC25A20

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Gene-Disease Validity (ClinGen)

carnitine-acylcarnitine translocase deficiency · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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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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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.17LOEUF

pLI 0.000

Z-score 1.04

OE 0.73 (0.48–1.17)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.30Z-score

OE missense 0.93 (0.82–1.07)

152 obs / 163.0 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.73 (0.48–1.17)

0≤0.351.4

Missense OE?0.93 (0.82–1.07)

0≤0.61.4

Synonymous OE?0.88

0≤1.21.6

LoF obs/exp: 13 / 17.7Missense obs/exp: 152 / 163.0Syn Z: 0.72

Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗

definitiveSLC25A20-related carnitine-acylcarnitine translocase deficiencyLOFAR

This gene — mechanism propensity

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

0.79top 25%

GOF

0.6735th %ile

LOF

0.2968th %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.