Recombinant Human Calcium-binding mitochondrial carrier protein Aralar2 (SLC25A13), Truncated

Uniprot Id

Q9UJS0

Target Species

Human

Target Name

SLC25A13

Target Full Name

Electrogenic aspartate/glutamate antiporter SLC25A13, 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

Citrullinemia 2 (CTLN2); Cholestasis, neonatal intrahepatic, caused by citrin deficiency (NICCD)

Target Subcellular Location

Mitochondrion inner membrane; Multi-pass membrane protein.

Target Protein Families

Mitochondrial carrier (TC 2.A.29) family

Target Tissue Specificity

High levels in liver and low levels in kidney, pancreas, placenta, heart and brain.

Target Synonyms

SLC25A13; ARALAR2; Calcium-binding mitochondrial carrier protein Aralar2; Citrin; Mitochondrial aspartate glutamate carrier 2; Solute carrier family 25 member 13

Target Background

This gene is a member of the mitochondrial carrier family. The encoded protein contains four EF-hand Ca(2+) binding motifs in the N-terminal domain, and localizes to mitochondria. The protein catalyzes the exchange of aspartate for glutamate and a proton across the inner mitochondrial membrane, and is stimulated by calcium on the external side of the inner mitochondrial membrane. Mutations in this gene result in citrullinemia, type II. Multiple transcript variants encoding different isoforms have been found for this gene.