Calcium-Binding Mitochondrial Carrier Protein Aralar1 (SLC25A12) Human Recombinant Protein

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. [provided by RefSeq, Apr 2012]

SLC25A12: Catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane. May have a function in the urea cycle. Defects in SLC25A12 are the cause of global cerebral hypomyelination (GCHM). A disorder with onset in infancy and characterized by severe psychomotor retardation, hypotonia, seizures, hypomyelination of the central nervous system, with the gray matter appearing relatively unaffected. Belongs to the mitochondrial carrier family.

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

Chromosomal Location of Human Ortholog: 2q24

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

Molecular Function: L-aspartate transmembrane transporter activity; calcium ion binding; L-glutamate transmembrane transporter activity

Biological Process: L-glutamate transport; carbohydrate metabolic process; glucose metabolic process; pathogenesis; aspartate transport; response to calcium ion; malate-aspartate shuttle; gluconeogenesis

Disease: Hypomyelination, Global Cerebral