Gene: SLC52A3

Alternate names for this Gene: BVVLS|BVVLS1|C20orf54|RFT2|RFVT3|bA371L19.1|hRFT2

Gene Summary: This gene encodes a riboflavin transporter protein that is strongly expressed in the intestine and likely plays a role in intestinal absorption of riboflavin. The protein is predicted to have eleven transmembrane domains and a cell surface localization signal in the C-terminus. Mutations at this locus have been associated with Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease.

Gene is located in Chromosome: 20

Location in Chromosome : 20p13

Description of this Gene: solute carrier family 52 member 3

Type of Gene: protein-coding

rs1219868273 in SLC52A3 gene and Brown-Vialetto-Van Laere Syndrome 1 PMID 20206331 2010 Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54.

PMID 20920669 2010 Exome sequencing in Brown-Vialetto-van Laere syndrome.

PMID 21110228 2011 Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment.

PMID 22718020 2012 Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.

PMID 27702554 2016 SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters.

PMID 22824638 2012 Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study.

PMID 22273710 2012 Effect of clinical mutations on functionality of the human riboflavin transporter-2 (hRFT-2).

PMID 22633641 2012 Brown-Vialetto-Van Laere syndrome: a riboflavin-unresponsive patient with a novel mutation in the C20orf54 gene.

PMID 27702554 2016 Here we present a 16-year-old BVVLS patient belonging to a five generation consanguineous family from Indian ethnicity with two homozygous missense mutations viz., c.421C>A [p.P141T] in SLC52A2 and c.62A>G [p.N21S] in SLC52A3.

PMID 22633641 2012 We describe a 3-year-old girl with early-onset Brown-Vialetto-Van Laere syndrome and a novel mutation in the C20orf54 gene (c.989G>T).

rs1167512470 in SLC52A3 gene and Dysmorphic features PMID 23107375 2012 The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives.

PMID 22824638 2012 Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study.

PMID 26976849 2016 SLC52A3, A Brown-Vialetto-van Laere syndrome candidate gene is essential for mouse development, but dispensable for motor neuron differentiation.

PMID 22740598 2012 Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease.

PMID 25462087 2015 Adult onset Brown-Vialetto-Van Laere syndrome with opsoclonus and a novel heterozygous mutation: a case report.

rs13042395 in SLC52A3 gene and Esophageal Neoplasms PMID 20729853 2010 Genome-wide association study of esophageal squamous cell carcinoma in Chinese subjects identifies susceptibility loci at PLCE1 and C20orf54.

rs1167512470 in SLC52A3 gene and Muscle hypotonia PMID 26976849 2016 SLC52A3, A Brown-Vialetto-van Laere syndrome candidate gene is essential for mouse development, but dispensable for motor neuron differentiation.

PMID 25462087 2015 Adult onset Brown-Vialetto-Van Laere syndrome with opsoclonus and a novel heterozygous mutation: a case report.

PMID 23107375 2012 The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives.

PMID 22740598 2012 Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease.

PMID 22824638 2012 Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study.

rs6117562 in SLC52A3 gene and Prostate carcinoma PMID 31562322 2019 12 new susceptibility loci for prostate cancer identified by genome-wide association study in Japanese population.