SLC25A3 gene

solute carrier family 25 member 3

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene catalyzes the transport of phosphate into the mitochondrial matrix, either by proton cotransport or in exchange for hydroxyl ions. The protein contains three related segments arranged in tandem which are related to those found in other characterized members of the mitochondrial carrier family. Both the N-terminal and C-terminal regions of this protein protrude toward the cytosol. Multiple alternatively spliced transcript variants have been isolated. [provided by RefSeq, Jul 2008]

From UniProt:

Transport of phosphate groups from the cytosol to the mitochondrial matrix. Phosphate is cotransported with H(+). May play a role regulation of the mitochondrial permeability transition pore (mPTP).

From NCBI Gene:

  • Mitochondrial phosphate carrier deficiency

From UniProt:

Mitochondrial phosphate carrier deficiency (MPCD): Fatal disorder of oxidative phosphorylation. Patients have lactic acidosis, hypertrophic cardiomyopathy and muscular hypotonia and die within the first year of life. [MIM:610773]

Cytogenetic Location: 12q23, which is the long (q) arm of chromosome 12 at position 23

Molecular Location: base pairs 98,593,625 to 98,602,000 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 12q23, which is the long (q) arm of chromosome 12 at position 23
  • OK/SW-cl.48
  • PHC
  • PTP