solute carrier family 22 member 5; organic cation/carnitine transporter 2; high-affinity Na+-dependent carnitine cotransporter (SLC22A5, OCTN2)

Function

• Na+ dependent, high affinity carnitine transporter
• role active cellular uptake of carnitine
• transports one Na+ with one molecule of carnitine
• also transports organic cations such as tetraethylammonium (TEA) without the involvement of Na+
• relative uptake activity ratio of carnitine to TEA is 11.3
• interacts with PDZK1 (putative)

Structure

• belongs to the major facilitator superfamily, organic cation transporter family

Compartment

membrane

Alternative splicing

named isoforms=2

Expression

• strongly expressed in kidney, skeletal muscle, heart & placenta
• highly expressed in intestinal cell types affected by Crohn disease, including epithelial cells
• expressed in CD68 macrophage & CD43 T-cells but not in CD20 B-cells

Pathology

• defects in SLC22A5 are the cause of systemic primary carnitine deficiency
• defects in SLC22A5 may be a cause of susceptibility to Crohn's disease

Pharmacology

• inhibited by emetine, quinidine & verapamil
• IC(50) of emetine is 4.2 uM
• not inhibited by valproic acid

More general terms

• solute carrier family 22 (SLC22, SLC22A)
• glycoprotein
• transmembrane 10 protein
• major facilitator superfamily (MFS)

Database

• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:6584
• OMIM: https://mirror.omim.org/entry/212140
• OMIM: https://mirror.omim.org/entry/266600
• OMIM: https://mirror.omim.org/entry/603377
• UniProt: http://www.uniprot.org/uniprot/O76082.html