Recombinant Human Calcium-binding mitochondrial carrier protein Aralar1 (SLC25A12), Truncated

Uniprot Id

O75746

Target Species

Human

Target Name

SLC25A12

Target Full Name

Electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial

Target Function

Mitochondrial and calcium-binding carrier that catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane. May have a function in the urea cycle.

Target Involvement

Epileptic encephalopathy, early infantile, 39 (EIEE39)

Target Subcellular Location

Mitochondrion inner membrane; Multi-pass membrane protein.

Target Protein Families

Mitochondrial carrier (TC 2.A.29) family

Target Tissue Specificity

Expressed predominantly in the heart and skeletal muscle, weakly in brain and kidney.

Target Synonyms

SLC25A12; ARALAR1; Calcium-binding mitochondrial carrier protein Aralar1; Mitochondrial aspartate glutamate carrier 1; Solute carrier family 25 member 12

Target Background

This gene encodes a calcium-binding mitochondrial carrier protein. The encoded protein localizes to the mitochondria and is involved in the exchange of aspartate for glutamate across the inner mitochondrial membrane. Polymorphisms in this gene may be associated with autism, and mutations in this gene may also be a cause of global cerebral hypomyelination. Alternatively spliced transcript variants have been observed for this gene.