SLC25A13 : solute carrier family 25 member 13

Description

The SLC25A13 (solute carrier family 25 member 13) is a protein-coding gene located on chromosome 7.

The SLC25A13 gene provides instructions for making a protein called citrin. Primarily active in the liver, kidneys, and heart, citrin plays a crucial role in transporting molecules into and out of mitochondria, the energy-producing structures within cells. Specifically, citrin carries the amino acid glutamate into mitochondria and transports aspartate out, contributing to the malate-aspartate shuttle. This shuttle is essential for the urea cycle, a process that removes excess nitrogen from the body by converting it into urea, which is then excreted in urine. Citrin also participates in other cellular functions like sugar production and breakdown, protein synthesis, and the production of nucleotides, the building blocks of DNA and RNA.

Citrin is a mitochondrial protein that acts as an electrogenic aspartate/glutamate antiporter. It facilitates the movement of aspartate out of and glutamate into the mitochondria, along with a proton, as part of the malate-aspartate shuttle. Additionally, citrin can transport L-cysteinesulfinate into the mitochondria in exchange for L-glutamate and a proton. It can also exchange L-cysteinesulfinate with aspartate in their anionic forms without proton translocation.

SLC25A13 is also known as ARALAR2, CITRIN, CTLN2, NICCD.

Associated Diseases

Comprehensive carrier screening

WES Whole Exome Sequencing

Clinical Exome Sequencing