Full Product Name
SLC25A13 Antibody
Product Gene Name
anti-SLC25A13 antibody
[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
3D Structure
ModBase 3D Structure for Q9UJS0
Species Reactivity
Human, Mouse
Concentration
1.0mg/ml (lot specific)
Other Notes
Small volumes of anti-SLC25A13 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
Applications Tested/Suitable for anti-SLC25A13 antibody
Western Blot (WB)
NCBI/Uniprot data below describe general gene information for SLC25A13. It may not necessarily be applicable to this product.
NCBI Accession #
NP_001153682.1
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NCBI GenBank Nucleotide #
NM_001160210.1
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UniProt Primary Accession #
Q9UJS0
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UniProt Secondary Accession #
O14566; O14575; Q546F9; Q9NZW1; Q9UNI7[Other Products]
UniProt Related Accession #
Q9UJS0[Other Products]
Molecular Weight
74,304 Da
NCBI Official Full Name
calcium-binding mitochondrial carrier protein Aralar2 isoform 1
NCBI Official Synonym Full Names
solute carrier family 25 member 13
NCBI Official Symbol
SLC25A13 [Similar Products]
NCBI Official Synonym Symbols
CTLN2; CITRIN; ARALAR2
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NCBI Protein Information
calcium-binding mitochondrial carrier protein Aralar2
UniProt Protein Name
Calcium-binding mitochondrial carrier protein Aralar2
UniProt Synonym Protein Names
Citrin; Mitochondrial aspartate glutamate carrier 2; Solute carrier family 25 member 13
Protein Family
Calcium-binding mitochondrial carrier protein
UniProt Gene Name
SLC25A13 [Similar Products]
UniProt Synonym Gene Names
ARALAR2 [Similar Products]
NCBI Summary for SLC25A13
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 Comments for SLC25A13
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: Membrane protein, integral; Membrane protein, multi-pass; Mitochondrial; Transporter; Transporter, SLC family
Chromosomal Location of Human Ortholog: 7q21.3
Cellular Component: mitochondrial inner membrane; mitochondrion
Molecular Function: acidic amino acid transmembrane transporter activity; calcium ion binding; L-aspartate transmembrane transporter activity; L-glutamate transmembrane transporter activity
Biological Process: aspartate transport; ATP biosynthetic process; cellular respiration; gluconeogenesis; L-glutamate transport; malate-aspartate shuttle; response to calcium ion
Disease: Citrullinemia, Type Ii, Adult-onset; Citrullinemia, Type Ii, Neonatal-onset
Research Articles on SLC25A13
1. The large deletion enriched the SLC25A13 mutation spectrum, and its identification supported the concept that cDNA cloning analysis, along with other molecular tools such as semiquantitative PCR, could provide valuable clues, facilitating the identification of obscure SLC25A13 deletions.
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