Gene: SLC52A2
Alternate names for this Gene: BVVLS2|D15Ertd747e|GPCR41|GPR172A|PAR1|RFT3|RFVT2|hRFT3
Gene Summary: This gene encodes a membrane protein which belongs to the riboflavin transporter family. In humans, riboflavin must be obtained by intestinal absorption because it cannot be synthesized by the body. The water-soluble vitamin riboflavin is processed to the coenzymes flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD) which then act as intermediaries in many cellular metabolic reactions. Paralogous members of the riboflavin transporter gene family are located on chromosomes 17 and 20. Unlike other members of this family, this gene has higher expression in brain tissue than small intestine. Alternative splicing of this gene results in multiple transcript variants encoding the same protein. Mutations in this gene have been associated with Brown-Vialetto-Van Laere syndrome 2 - an autosomal recessive progressive neurologic disorder characterized by deafness, bulbar dysfunction, and axial and limb hypotonia.
Gene is located in Chromosome: 8
Location in Chromosome : 8q24.3
Description of this Gene: solute carrier family 52 member 2
Type of Gene: protein-coding
Gene: FBXL6
Alternate names for this Gene: FBL6|FBL6A|PP14630
Gene Summary: This gene encodes a member of a family of proteins that are characterized by an F-box motif. The encoded protein also contains leucine-rich repeats. F-box-containing proteins comprise one of the subunits of the SCF (SKP1-cullin-F-box) complex, which functions in phosphorylation-dependent ubiquitination. Alternative splicing results in multiple transcript variants.
Gene is located in Chromosome: 8
Location in Chromosome : 8q24.3
Description of this Gene: F-box and leucine rich repeat protein 6
Type of Gene: protein-coding
rs397514538 in
SLC52A2;FBXL6 gene and
BROWN-VIALETTO-VAN LAERE SYNDROME 2
PMID 22864630 2012 Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome.
PMID 24253200 2014 Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.
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 22740598 2012 Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease.
PMID 23243084 2013 Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations.
PMID 22824638 2012 Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study.
PMID 25133958 2014 Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.
PMID 26669662 2016 Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2).
PMID 24616084 2014 Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood.