SLC25A13 Membrane Protein Introduction

Introduction of SLC25A13

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
Gene Name SLC25A13
Aliases Citrin, Mitochondrial aspartate glutamate carrier 2, Solute carrier family 25 member 13
Organism Homo sapiens (Human)
UniProt ID Q9UJS0
Transmembrane Times 6
Length (aa) 675

Function of SLC25A13 Membrane Protein

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.

The structure of Calcium-binding mitochondrial carrier protein Aralar2. Fig.1 The structure of Calcium-binding mitochondrial carrier protein Aralar2.

Application of SLC25A13 Membrane Protein in Literature

  1. Song Y.Z., et al. SLC25A13 Gene Analysis in Citrin Deficiency: Sixteen Novel Mutations in East Asian Patients, and the Mutation Distribution in a Large Pediatric Cohort in China. PLoS ONE. 2013,8 (9): e74544. PubMed ID: 24069319

    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.

  2. Zhang Z.H., et al. Molecular Diagnosis of Citrin Deficiency in an Infant with Intrahepatic Cholestasis: Identification of a 21.7kb Gross Deletion That Completely Silences the Transcriptional and Translational Expression of the Affected SLC25A13 Allele. Oncotarget. 2017,8 (50): 87182-87193. PubMed ID: 29152073

    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.

  3. Lin W.X., et al. Molecular Diagnosis of Pediatric Patients with Citrin Deficiency in China: SLC25A13 Mutation Spectrum and the Geographic Distribution. Scientific Reports. 2016, (6): 29732. PubMed ID: 27405544

    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.

  4. Lu C.T., et al. Blood Glucose and Insulin and Correlation of SLC25A13 Mutations with Biochemical Changes in NICCD Patients. Experimental Biology and Medicine. 2017, 242 (12): 1271-1278. PubMed ID: 28516797

    This study suggests that SLC25A13 gene mutations distribution is associated with the GCT level.

  5. Zhang Z.H., et al. Cloning and Sequence Analysis of SLC25A13 Transcripts in Human Amniocytes. Translational Pediatrics. 2012,1 (2): 85-90. PubMed ID: 26835269

    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.

SLC25A13 Preparation Options

To obtain the soluble and functional target protein, the versatile Magic™ membrane protein production platform in Creative Biolabs enables many flexible options, from which you can always find a better match for your particular project. Aided by our versatile Magic™ anti-membrane protein antibody discovery platform, we also provide customized anti-KCNAB2 antibody development services.

Creative Biolabs' skillful scientists are glad to leverage our expertise and advanced technologies to help you with the member protein research. If you are interested, please feel free to contact us for more details.

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