Human Calcium-binding mitochondrial carrier protein Aralar1, SLC25A12 ELISA Kit | SLC25A12 elisa kit
Human Calcium-binding mitochondrial carrier protein Aralar1, SLC25A12 ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
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: Membrane protein, integral; Membrane protein, multi-pass; Mitochondrial; Transporter, SLC family; 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
Research Articles on SLC25A12
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Product Notes
The Human SLC25A12 slc25a12 (Catalog #AAA1607330) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA1607330 ELISA Kit recognizes Human SLC25A12. It is sometimes possible for the material contained within the vial of "Calcium-binding mitochondrial carrier protein Aralar1, SLC25A12, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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