SLC52A3
Function
Plasma membrane transporter mediating the uptake by cells of the water soluble vitamin B2/riboflavin that plays a key role in biochemical oxidation-reduction reactions of the carbohydrate, lipid, and amino acid metabolism (PubMed:20463145, PubMed:22273710, PubMed:24264046, PubMed:27702554). Humans are unable to synthesize vitamin B2/riboflavin and must obtain it via intestinal absorption (PubMed:20463145).
Involvement in disease
Brown-Vialetto-Van Laere syndrome 1
BVVLS1
A rare neurologic disorder characterized by sensorineural hearing loss and a variety of cranial nerve palsies, which develop over a relatively short period of time in a previously healthy individual. Sensorineural hearing loss may precede the neurological signs. The course is invariably progressive, but the rate of decline is variable within and between families. With disease evolution, long tract signs, lower motor neuron signs, cerebellar ataxia and lower cranial nerve (III-VI) palsies develop, giving rise to a complex picture resembling amyotrophic lateral sclerosis. Diaphragmatic weakness and respiratory compromise are some of the most distressing features, leading to recurrent chest infections and respiratory failure, which are often the cause of patients' demise.
None
The disease is caused by variants affecting the gene represented in this entry.
Fazio-Londe disease
FALOND
A rare neurological disease characterized by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. It may present in childhood with severe neurological deterioration with hypotonia, respiratory insufficiency leading to premature death, or later in life with bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the riboflavin transporter family.
Tissue Specificity
Predominantly expressed in testis. Highly expressed in small intestine and prostate.
Cellular localization
- Apical cell membrane
- Multi-pass membrane protein
- Cell membrane
- Isoform 1
- Cell membrane
- Multi-pass membrane protein
- Nucleus membrane
- Multi-pass membrane protein
- Cytoplasm
- Isoform 2
- Cytoplasm
Alternative names
C20orf54, RFT2, RFVT3, SLC52A3, Riboflavin transporter 2, hRFT2