SLC5A6

Full Name

Solute Carrier Family 5 Member 6

Function

Sodium-dependent multivitamin transporter that transports pantothenate, biotin and lipoate (PubMed:10329687, PubMed:15561972, PubMed:21570947, PubMed:20980265, PubMed:22927035, PubMed:22015582, PubMed:25971966, PubMed:25809983, PubMed:28052864, PubMed:27904971, PubMed:31754459).
Required for biotin and pantothenate uptake in the instestine (By similarity).
Plays a role in the maintenance of intestinal mucosa integrity, by providing the gut mucosa with biotin (By similarity).
May play a role in the transport of biotin and pantothenate into the brain across the blood-brain barrier (PubMed:25809983).
May also be involved in the sodium-dependent transport of iodide ions (PubMed:20980265).

Biological Process

Biological Process biotin import across plasma membraneManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process biotin transportManual Assertion Based On ExperimentIBA:GO_Central
Biological Process iodide transmembrane transportManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process pantothenate transmembrane transportManual Assertion Based On ExperimentIMP:ARUK-UCL
Biological Process sodium ion transportManual Assertion Based On ExperimentIBA:GO_Central
Biological Process transport across blood-brain barrierManual Assertion Based On ExperimentIMP:ARUK-UCL

Cellular Location

Cell membrane
(Microbial infection) Exposure to E.coli lipopolysaccharides leeds to reduced cell membrane localization.

Involvement in disease

Neurodegeneration, infantile-onset, biotin-responsive (NERIB):
An autosomal recessive disorder characterized by early infantile onset, progressive neurodegeneration, global developmental delay, and developmental regression with loss of early motor and cognitive milestones. Additional variable features include seizures, ataxia, spasticity, peripheral neuropathy, immune defects, and osteopenia. Treatment with biotin, pantothenic acid, and lipoate may result in clinical improvement.

PTM

May be glycosylated.