SLC5A6

Description

The SLC5A6 (solute carrier family 5 member 6) is a protein-coding gene located on chromosome 2.

The Sodium-dependent multivitamin transporter (SMVT) is a protein encoded by the SLC5A6 gene in humans. SMVT functions as a transporter at the blood-brain barrier for pantothenic acid (vitamin B5) and biotin (vitamin B7). It also transports alpha lipoic acid and iodide. The transport of these nutrients is competitive, meaning that an excess of one nutrient can saturate the transporter and prevent the uptake of others.

SLC5A6 (Sodium-dependent multivitamin transporter) functions as a Na(+)-coupled substrate symporter, transporting pantothenate, biotin, lipoate, and iodide across cell membranes. The transport process utilizes a 2:1 stoichiometry of Na(+) to substrate, driven by the electrochemical Na(+) gradient. This transporter is essential for the uptake of biotin and pantothenate in the intestines, specifically across the brush border membrane. It plays a role in maintaining intestinal mucosal integrity by providing biotin to the gut mucosa. Additionally, SLC5A6 facilitates the uptake of biotin and pantothenate from the bloodstream into the brain, crossing the blood-brain barrier. Interactions with PDZD11 have been observed.

SLC5A6 is also known as COMNB, NERIB, SMVT, SMVTD, hSMVT.

Associated Diseases

• Neurodegeneration, infantile-onset, biotin-responsive
• Peripheral motor neuropathy, childhood-onset, biotin-responsive