SLC25A4

This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this gene functions as a gated pore that translocates ADP from the cytoplasm into the mitochondrial matrix and ATP from the mitochondrial matrix into the cytoplasm. The protein forms a homodimer embedded in the inner mitochondria membrane. Mutations in this gene have been shown to result in autosomal dominant progressive external opthalmoplegia and familial hypertrophic cardiomyopathy. [provided by RefSeq, Jun 2013]

Description

Solute carrier family 25 member 4

Tissue specificity

Group enriched (heart muscle, skeletal muscle, tongue)

Subcell location

Mitochondria

Predicted location

Membrane

Protein family

Disease related genes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters

Chromosome

4 (185143266 - 185150382)

Ensembl ID

ENSG00000151729  (ver. 103.38)

Orthologs

Mouse Slc25a4: ENSMUSG00000031633

UniProt

P12235

neXtProt

NX_P12235

Human splice variants
Mouse splice variants

Protein structure