SLCtables

SLC52A3

Protein name: N/D Aliases: RFVT3, RFT2, C20orf54, RIKEN cDNA 2310046K01, hypothetical protein LOC113278, bA371L19.1 Substrates: N/D Transport type: Cotransporter / Na+, Cl-indep., pH sensitive Tissue and cellular expression: testis > small intestine > prostate, etc Subcellular expression: N/D Disease: N/D Locus: 20p13 Sequence ID: NP_212134.3, Gene ID: 113278 Splice variants: N/D

S52A3_HUMAN (UniProt)

Gene names: SLC52A3, C20orf54, RFT2
Protein names and data: S52A3_HUMAN, Full=Solute carrier family 52, riboflavin transporter, member 3, Full=Riboflavin transporter 2;Short=hRFT2; Length: 469 a.a., Mass: 50805 Da,
fasta formatted sequence
Function: Riboflavin transporter. Riboflavin transport is Na(+)- independent but moderately pH-sensitive. Activity is strongly inhibited by riboflavin analogs, such as lumiflavin, flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD), and to a lesser extent by amiloride
Disease: (OMIM: 211500 211530 613350) Defects in SLC52A3 are the cause of Brown-Vialetto-Van Laere syndrome type 1 (BVVLS1) [MIM:211530]. A rare autosomal recessive 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; Defects in SLC52A3 are the cause of Fazio-Londe disease (FALOND) [MIM:211500]. 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
Cellular location: Cell membrane; Multi-pass membrane protein
Tissue specificity: Predominantly expressed in testis. Highly expressed in small intestine and prostate

Database cross-references

UniProt: Q9NQ40
NextBio: 78824
OMIM: 211500 211530 613350
Ensembl: ENST00000381944
GeneCard: GC20M000741
Guide to Pharmacology: SLC52A3 (2573)
SLC52 family of riboflavin transporters (2573)
HGNC: HGNC:16187

Genetic variants

See also Ensembl:ENST00000381944

36 - 36 E -> K (in BVVLS1). VAR_063694
74 - 74 I -> M (in dbSNP:rs35655964). VAR_053565 35655964
132 - 132 R -> W (in BVVLS1). VAR_063695
174 - 174 D -> G (in dbSNP:rs6054614). VAR_053566 6054614
224 - 224 F -> L (in BVVLS1). VAR_063696
267 - 267 P -> L (in dbSNP:rs3746804). VAR_053567 3746804
278 - 278 T -> M (in dbSNP:rs3746803). VAR_053568 3746803
303 - 303 I -> V (in dbSNP:rs3746802). VAR_053569 3746802
350 - 350 L -> M (may be a common polymorphism). VAR_063698
411 - 411 S -> R (in dbSNP:rs910857). VAR_063699 910857
413 - 413 V -> A (in BVVLS1; may cause a mild form of the disease). VAR_063700
457 - 457 F -> L (in BVVLS1). VAR_063701