SLC25A12 Recombinant Rabbit Monoclonal Antibody [JE65-52] (HA721066)

UNIPROT #

O75746

PROTEIN NAME

SLC25A12

SYNONYMS

AGC1 antibody;Araceli hiperlarga antibody;ARALAR antibody;ARALAR1 antibody;Calcium binding mitochondrial carrier superfamily member antibody;Calcium binding mitochondrial carrier superfamily member Aralar1 antibody;Calcium-binding mitochondrial carrier protein Aralar1 antibody;CMC1_HUMAN antibody;Mitochondrial aspartate glutamate carrier 1 antibody;SLC25A12 antibody;Solute carrier family 25 (aspartate/glutamate carrier) member 12 antibody;Solute carrier family 25 (mitochondrial carrier Aralar) member 12 antibody;Solute carrier family 25 member 12 antibody;solute carrier family 25, member 12 antibody

SUBCELLULAR LOCATION

Mitochondrion inner membrane.

FUNCTION

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. SLC25A12 (Solute Carrier Family 25 Member 12) is a Protein Coding gene. Diseases associated with SLC25A12 include Developmental And Epileptic Encephalopathy 39 and Citrullinemia, Type Ii, Adult-Onset. Among its related pathways are Glycosaminoglycan metabolism and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include calcium ion binding and L-aspartate transmembrane transporter activity. An important paralog of this gene is SLC25A13. 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.