SLC25A24

This gene encodes a carrier protein that transports ATP-Mg exchanging it for phosphate. Multiple transcript variants encoding different isoforms have been found for this gene.

Full Name

SLC25A24

Function

Calcium-dependent mitochondrial solute carrier. Mediates the reversible, electroneutral exchange of Mg-ATP or Mg-ADP against phosphate ions, catalyzing the net uptake or efflux of adenine nucleotides across the mitochondrial inner membrane. Nucleotide transport is inactive when cytosolic calcium levels are low, and is activated by an increase in cytosolic calcium levels. May play a role in protecting cells against oxidative stress-induced cell death, probably by promoting the formation of calcium-phosphate precipitates in the mitochondrial matrix, and thereby buffering calcium levels in the mitochondrial matrix.

Biological Process

Biological Process ATP transportManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process cellular response to calcium ionManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process cellular response to oxidative stressManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process mitochondrial transportManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process regulation of cell deathManual Assertion Based On ExperimentIMP:UniProtKB

Cellular Location

Mitochondrion inner membrane

Involvement in disease

Fontaine progeroid syndrome (FPS):
An autosomal dominant progeroid disorder characterized by prenatal and postnatal growth retardation, decreased subcutaneous fat tissue, wrinkled skin, an aged appearance since birth, an abnormal scalp hair pattern, sparse hair, hypoplastic distal phalanges with hypoplastic nails, a widely open anterior fontanel, facial dysmorphisms, and craniosynostosis. Early death is observed in some patients.

Topology

Mitochondrial intermembrane: 1-197
Helical: 198-215
Mitochondrial matrix: 216-252
Helical: 253-272
Mitochondrial intermembrane: 273-295
Helical: 296-309
Mitochondrial matrix: 310-345
Helical: 346-365
Mitochondrial intermembrane: 366-388
Helical: 389-406
Mitochondrial matrix: 407-445
Helical: 446-465
Mitochondrial intermembrane: 466-477