SLC25A20

Chr 3p21.31

solute carrier family 25 member 20

Aliases:: CAC
MANE:: ENST00000319017.5

OMIM: 613698 ↗NCBI: 788 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

SLC25A20 · O43772

v62025-08-01

Predicted Aligned Error matrix for SLC25A20 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

88.8/ 100

Confident

301 residues

Confidence breakdown

Very high(≥ 90)64%
Confident(70–90)33%
Low(50–70)2%
Very low(< 50)2%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Hyperammonaemia
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder

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Disease associations (Open Targets)

carnitine-acylcarnitine translocase deficiency
0.83
hereditary disease
0.19
Abnormality of the skeletal system
0.10
Pancreatic pseudocyst
0.09
neoplasm
0.08
hepatocellular carcinoma
0.08
alcohol drinking
0.08
atrial fibrillation
0.08
urolithiasis
0.07
hyperinsulinemic hypoglycemia, familial, 4
0.06

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

Protein function (UniProt)

Mitochondrial carnitine/acylcarnitine carrier protein

Mediates the electroneutral exchange of acylcarnitines (O-acyl-(R)-carnitine or L-acylcarnitine) of different acyl chain lengths (ranging from O-acetyl-(R)-carnitine to long-chain O-acyl-(R)-carnitines) with free carnitine ((R)-carnitine or L-carnitine) across the mitochondrial inner membrane, via a ping-pong mechanism (Probable) (PubMed:12892634, PubMed:18307102). Key player in the mitochondrial oxidation pathway, it translocates the fatty acids in the form of acylcarnitines into the mitochondrial matrix, where the carnitine palmitoyltransferase 2 (CPT-2) activates them to undergo fatty acid beta-oxidation (Probable). Catalyzes the unidirectional transport (uniport) of carnitine at lower rates than the antiport (exchange) (PubMed:18307102)