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
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
rs398123068 in
FBXL6;SLC52A2 gene and
BROWN-VIALETTO-VAN LAERE SYNDROME 2
PMID 24253200 2014 Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.
PMID 22740598 2012 Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease.
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 23243084 2013 Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations.
PMID 22864630 2012 Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome.
rs754320812 in
FBXL6;SLC52A2 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 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.
rs754320812 in
FBXL6;SLC52A2 gene and
Movement Disorders
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 24253200 2014 Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.
PMID 23107375 2012 The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives.
rs754320812 in
FBXL6;SLC52A2 gene and
Muscle hypotonia
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 23107375 2012 The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives.