Sequence in raw or FASTA format:
SLC25A13 solute carrier family 25 (aspartate/glutamate carrier), member 13 [Homo sapiens (human)]
|Entrez Gene ID||10165|
|Full Name||solute carrier family 25 (aspartate/glutamate carrier), member 13|
|Synonyms||ARALAR2, CITRIN, CTLN2|
|General protein information||
|Organism||Homo sapiens (human)|
|Summary||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].|
Citrullinemia, adult-onset type II, 603471 (3); Citrullinemia,
|REACT_17015||Metabolism of proteins|
|REACT_474||Metabolism of carbohydrates|
|REACT_118595||Mitochondrial protein import|
|REACT_200783||Myoclonic epilepsy of Lafora|
|REACT_200833||Glycogen storage diseases|
|Homo sapiens (human)||SLC25A13||NP_055066.1|
|Pan troglodytes (chimpanzee)||SLC25A13||XP_527824.3|
|Macaca mulatta (Rhesus monkey)||SLC25A13||XP_001088340.2|
|Canis lupus familiaris (dog)||SLC25A13||XP_852644.2|
|Bos taurus (cattle)||SLC25A13||XP_002686709.3|
|Mus musculus (house mouse)||Slc25a13||NP_001171043.1|
|Gallus gallus (chicken)||SLC25A13||NP_001012967.1|
|Xenopus (Silurana) tropicalis (western clawed frog)||slc25a13||NP_001107969.1|
|GO:0005975||carbohydrate metabolic process||TAS|
|GO:0006006||glucose metabolic process||TAS|
|GO:0006754||ATP biosynthetic process||IDA|
|GO:0044281||small molecule metabolic process||TAS|
|GO:0051592||response to calcium ion||IDA|
|GO:0005743||mitochondrial inner membrane||ISS|
|GO:0005743||mitochondrial inner membrane||TAS|
|GO:0005887||integral component of plasma membrane||NAS|
|GO:0005313||L-glutamate transmembrane transporter activity||IDA|
|GO:0005509||calcium ion binding||IDA|
|GO:0015183||L-aspartate transmembrane transporter activity||IDA|
What is the normal function of the SLC25A13 gene?
The SLC25A13 gene provides instructions for making a protein called citrin. This protein is active chiefly in the liver, kidneys, and heart. Within the cells of these organs, citrin is involved in transporting molecules into and out of energy-producing structures called mitochondria. Specifically, citrin carries a protein building block (amino acid) called glutamate into mitochondria and transports the amino acid aspartate out of mitochondria as part of a process called the malate-aspartate shuttle.
An adequate supply of aspartate must be transported out of mitochondria to participate in a process called the urea cycle. The urea cycle is a sequence of chemical reactions that takes place in liver cells. These reactions process excess nitrogen that is generated as the body uses proteins. The excess nitrogen is used to make a compound called urea, which is excreted from the body in urine.
Citrin participates in several other important cellular functions as part of the malate-aspartate shuttle. This protein plays a role in producing and breaking down simple sugars and making proteins. It is also involved in the production of nucleotides, which are the building blocks of DNA and its chemical cousin, RNA.
Our customer service representatives are available 24 hours a day, Monday through Friday; please contact us anytime for assistance.