SLC22A5 : solute carrier family 22 member 5

Description

The SLC22A5 (solute carrier family 22 member 5) is a protein-coding gene located on chromosome 5.

The SLC22A5 gene provides instructions for making a protein called OCTN2 that is found in the heart, liver, muscles, kidneys, and other tissues. This protein is positioned within the cell membrane, where it transports a substance known as carnitine into the cell. Carnitine is mainly obtained from food and is needed to bring certain types of fats (fatty acids) into mitochondria, which are the energy-producing centers within cells. Fatty acids are a major source of energy for the heart and muscles. During periods without food (fasting), fatty acids become the most important energy source for the heart and other muscles.

The SLC22A5 gene encodes for the OCTN2 protein, a high-affinity sodium-dependent carnitine transporter that is responsible for the active uptake of carnitine into cells. It facilitates the transport of one sodium ion along with one carnitine molecule (PMID:10454528, 10525100, 10966938, 17509700, 20722056, 33124720). The transporter also carries organic cations such as tetraethylammonium (TEA) independently of sodium, with a relative uptake activity ratio of carnitine to TEA being 11.3 (PMID:10454528, 10525100, 10966938). In intestinal epithelial cells, OCTN2 transports the quorum-sensing pentapeptide CSF (competence and sporulation factor) from Bacillus Subtilis, which triggers the production of cytoprotective heat shock proteins, thereby contributing to intestinal homeostasis (PMID:18005709). Additionally, OCTN2 may play a role in regulating the transport of organic compounds across the blood-testis barrier in the testis (PMID:35307651).

SLC22A5 is also known as CDSP, OCTN2.

Associated Diseases

Comprehensive carrier screening

WES Whole Exome Sequencing

Clinical Exome Sequencing