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FB2026_01
,
released March 12, 2026
Riboflavin transporter deficiency neuronopathy encompasses three OMIM-defined diseases: Brown-Vialetto-Van Laere syndrome 1 (BVVLS1; MIM:211530, FBhh0000800) and Fazio-Londe disease (MIM:211500), in which the riboflavin transporter gene SLC52A3 is implicated; and Brown-Vialetto-Van Laere syndrome 2 (BVVLS2 MIM:614707, FBhh0000801), in which the riboflavin transporter gene SLC52A2 is implicated. There is a single riboflavin transporter gene in Drosophila, Rift, for which RNAi-targeting constructs and alleles caused by insertional mutagenesis have been generated.
Neither SLC52A3 nor SLC52A2 has been introduced into flies.
Reduced function of Rift effected by RNAi results in severely impaired locomotor activity and reduced lifespan, recapitulating phenotypes of the human riboflavin transporter diseases. The fly phenotypes were partially rescued by feeding a derivative of riboflavin (an esterified derivative more likely diffuse into the intracellular space independently of riboflavin transporter function and be cleaved by esterases to release active riboflavin).
[updated May 2018 by FlyBase; FBrf0222196]
Riboflavin transporter deficiency neuronopathy is a phenotypic continuum characterized by motor neuronopathy (manifest as proximal and distal limb weakness, often with severe distal wasting and breathing problems), sensory neuronopathy (manifest as gait ataxia), and cranial neuronopathy (manifest as optic atrophy, sensorineural deafness, and bulbar palsy). Onset is usually in infancy or in childhood before age eight years, although on occasion individuals with genetically proven disease present in the third decade. [Gene Reviews, Riboflavin Transporter Deficiency Neuronopathy; 2018.05.02]
Riboflavin transporter deficiency neuronopathy is caused by mutation of either SLC52A2 or SLC52A3; it exhibits autosomal recessive inheritance. [Gene Reviews, Riboflavin Transporter Deficiency Neuronopathy; 2018.05.02]
Many to one (3 human to 1 Drosophila). The 3 human genes are SLC52A3, SLC52A2, and SLC52A1.
Many to one (3 human to 1 Drosophila). The 3 human genes are SLC52A3, SLC52A2, and SLC52A1.
Moderate- to high-scoring ortholog of human SLC52A3, SLC52A2, and SLC52A1 (1 Drosophila to 3 human). Dmel\Rift shares 36% identity and 52-53% similarity with the human genes.