SLC25A3

Chr 12q23.1

solute carrier family 25 member 3

Aliases:: PiC, PTP
MANE:: ENST00000552981.6

OMIM: 600370 ↗NCBI: 5250 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SLC25A3 · Q00325

v62025-08-01

Predicted Aligned Error matrix for SLC25A3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

79.8/ 100

Confident

362 residues

Confidence breakdown

Very high(≥ 90)35%
Confident(70–90)46%
Low(50–70)8%
Very low(< 50)12%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder
Hypertrophic cardiomyopathy
Unknown

Disease associations (Open Targets)

cardiomyopathy-hypotonia-lactic acidosis syndrome
0.70
Cardiomyopathy - hypotonia - lactic acidosis
0.68
neurodegenerative disease
0.54
mitochondrial disease
0.18
inborn mitochondrial metabolism disorder
0.18
hepatocellular carcinoma
0.09
benign urinary system neoplasm
0.07
placenta praevia
0.07
cervical carcinoma
0.06
infection
0.05

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

Protein function (UniProt)

Solute carrier family 25 member 3

Inorganic ion transporter that transports phosphate or copper ions across the mitochondrial inner membrane into the matrix compartment (By similarity) (PubMed:17273968, PubMed:29237729). Mediates proton-coupled symport of phosphate ions necessary for mitochondrial oxidative phosphorylation of ADP to ATP (By similarity) (PubMed:17273968). Transports copper ions probably in the form of anionic copper(I) complexes to maintain mitochondrial matrix copper pool and to supply copper for cytochrome C oxidase complex assembly (PubMed:29237729). May also play a role in regulation of the mitochondrial permeability transition pore (mPTP) (By similarity)