Calcium-binding mitochondrial carrier protein Aralar2, also known as solute carrier family 25, member 13 (SLC25A13), is a transmembrane protein encoded by the SLC25A13 gene in humans. This protein is called Citrin in common. The human gene SLC25A13 is localized at chromosome 7q21.3, which consists of 18 exons and encodes a 3.4kb transcript with a predicted opening reading frame (ORF) of 2,025 bp. Citrin is involved in type II citrullinemia. And the deficiency of Citrin results in neonatal intrahepatic cholestasis. When it comes to vitamin P, citrin is the most active bioflavonoid in lemons, which was found to be Eriodictyol (but a more active ingredient was discovered there decades later).
|Basic Information of SLC25A13|
|Protein Name||Calcium-binding mitochondrial carrier protein Aralar2|
|Aliases||Citrin, Mitochondrial aspartate glutamate carrier 2, Solute carrier family 25 member 13|
|Organism||Homo sapiens (Human)|
SLC25A13 mutations result in citrin deficiency (CD), and CTLN2 was the firstly-described CD phenotype, which occurs in adolescents or adults and the prognosis is usually not benign. The protein product of this gene is designated as citrin, which, as the liver-type aspartate/glutamate carrier isoform 2 (AGC2), functions to export aspartate from the mitochondrial matrix in exchange for cytosolic glutamate and H+, playing important roles in the urea cycle and malate-aspartate shuttle. Biallelic SLC25A13 mutations result in citrin deficiency (CD), a disease entity with three age-dependent clinical phenotypes.
Fig.1 The structure of Calcium-binding mitochondrial carrier protein Aralar2.
Analysis of the SLC25A13 gene and its protein/messenger RNA products remains a reliable tool for the diagnosis of patients with celiac disease. To date, the SLC25A13 variant profile of Chinese patients with celiac disease has not been well described.
This article reveals that the hitherto largest deletion in SLC25A13 mutation spectrum is the novel gross deletion, which silenced the transcriptional and translational expression of the affected SLC25A13 allele.
These findings enriched the mutant spectrum of SLC25A13, brought new insights into the geographical distribution of mutations and genotypes, and provided a reliable basis for NICCD to identify and identify relevant molecular targets in different regions of China.
This study suggests that SLC25A13 gene mutations distribution is associated with the GCT level.
This research shows that the entire ORF of the SLC25A13 cDNA can be successfully amplified by culturing human amniocytes, and exon 5-11 are used as a new SLC25A13 transcript.
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