SLC25A3 Antibody – Rabbit Polyclonal

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]

SLC25A3: Transport of phosphate groups from the cytosol to the mitochondrial matrix. Phosphate is cotransported with H(+). Defects in SLC25A3 are a cause of mitochondrial phosphate carrier deficiency (MPCD). MPCD is a fatal disorder of oxidative phosphorylation. Patients have lactic acidosis, hypertrophic cardiomyopathy and muscular hypotonia and die within the first year of life. Belongs to the mitochondrial carrier family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral; Transporter, SLC family; Membrane protein, multi-pass; Transporter; Mitochondrial

Chromosomal Location of Human Ortholog: 12q23

Cellular Component: membrane; mitochondrion; integral to plasma membrane; mitochondrial inner membrane

Molecular Function: phosphate carrier activity; symporter activity; protein complex binding

Biological Process: generation of precursor metabolites and energy; transport

Disease: Mitochondrial Phosphate Carrier Deficiency