Bovine Calcium-binding mitochondrial carrier protein Aralar2 (SLC25A13) ELISA Kit | SLC25A13 elisa kit
Bovine Calcium-binding mitochondrial carrier protein Aralar2 (SLC25A13) ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
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. [provided by RefSeq, May 2009]
Uniprot Description
SLC25A13: 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 SLC25A13 are the cause of citrullinemia type 2 (CTLN2). Citrullinemia belongs to the urea cycle disorders. It is an autosomal recessive disease characterized primarily by elevated serum and urine citrulline levels. Ammonia intoxication is another manifestation. CTLN2 is characterized by neuropsychiatric symptoms including abnormal behaviors, loss of memory, seizures and coma. Death can result from brain edema. Onset is sudden and usually between the ages of 20 and 50 years. Defects in SLC25A13 are the cause of neonatal intrahepatic cholestasis due to citrin deficiency (NICCD). NICCD is a form of citrullinemia type 2 with neonatal onset. NICCD is characterized by suppression of the bile flow, hepatic fibrosis, low birth weight, growth retardation, hypoproteinemia, variable liver dysfunction. NICCD is generally not severe and symptoms disappear by one year of age with an appropriate diet. Years or even decades later, however, some individuals develop the characteristic features of citrullinemia type 2 with neuropsychiatric symptoms. Belongs to the mitochondrial carrier family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Transporter, SLC family; Membrane protein, multi-pass; Mitochondrial; Membrane protein, integral; Transporter
Chromosomal Location of Human Ortholog: 7q21.3
Cellular Component: mitochondrion; integral to plasma membrane; mitochondrial inner membrane
Molecular Function: L-aspartate transmembrane transporter activity; transporter activity; calcium ion binding; L-glutamate transmembrane transporter activity
Biological Process: L-glutamate transport; transport; ATP biosynthetic process; carbohydrate metabolic process; cellular respiration; glucose metabolic process; pathogenesis; aspartate transport; malate-aspartate shuttle; response to calcium ion; gluconeogenesis
Disease: Citrullinemia, Type Ii, Adult-onset; Citrullinemia, Type Ii, Neonatal-onset
Research Articles on SLC25A13
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Product Notes
The Bovine SLC25A13 slc25a13 (Catalog #AAA7201987) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA7201987 ELISA Kit recognizes Bovine SLC25A13. It is sometimes possible for the material contained within the vial of "Calcium-binding mitochondrial carrier protein Aralar2 (SLC25A13), 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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Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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