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2.A.125.1.2
Solute carrier family 52, riboflavin transporter, member 3 (Riboflavin transporter 2) (hRFVT2, RFVT3). Riboflavin transporter deficiency (RTD) is a rare neurological condition that encompasses the Brown-Vialetto-Van Laere and Fazio-Londe syndromes.  Since the discovery of pathogenic mutations in the SLC52A2 and SLC52A3 genes that encode human riboflavin transporters RFVT2 and RFVT3, treatment with high doses of riboflavin have proven to be helpful treatments. Patients exhibit a deteriorating progression of peripheral and cranial neuropathy that causes muscle weakness, vision loss, deafness, sensory ataxia, and respiratory compromise which when left untreated can be fatal (O'Callaghan et al. 2019). Intestinal RFVT3 interacts with TMEM237 (TC# 8.A.121), and this interaction has physiological/biological significance; it seems to be an inducer of RFVT3 synthesis (Sabui et al. 2019).

Accession Number:Q9NQ40
Protein Name:Solute carrier family 52, riboflavin transporter, member 3
Length:469
Molecular Weight:50805.00
Species:Homo sapiens (Human) [9606]
Number of TMSs:11
Location1 / Topology2 / Orientation3: Cell membrane1 / Multi-pass membrane protein2
Substrate riboflavin

Cross database links:

Entrez Gene ID: 113278   
Pfam: PF06237   
KEGG: hsa:113278   

Gene Ontology

GO:0005887 C:integral to plasma membrane
GO:0032217 F:riboflavin transporter activity
GO:0034605 P:cellular response to heat
GO:0007605 P:sensory perception of sound

References (7)

[1] “Complete sequencing and characterization of 21,243 full-length human cDNAs.”  Ota T.et.al.   14702039
[2] “The DNA sequence and comparative analysis of human chromosome 20.”  Deloukas P.et.al.   11780052
[3] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334
[4] “Identification and functional characterization of rat riboflavin transporter 2.”  Yamamoto S.et.al.   19122205
[5] “Identification and comparative functional characterization of a new human riboflavin transporter hRFT3 expressed in the brain.”  Yao Y.et.al.   20463145
[6] “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.”  Bosch A.M.et.al.   21110228
[7] “Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54.”  Green P.et.al.   20206331

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Predict TMSs (Predict number of transmembrane segments)
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FASTA formatted sequence
1:	MAFLMHLLVC VFGMGSWVTI NGLWVELPLL VMELPEGWYL PSYLTVVIQL ANIGPLLVTL 
61:	LHHFRPSCLS EVPIIFTLLG VGTVTCIIFA FLWNMTSWVL DGHHSIAFLV LTFFLALVDC 
121:	TSSVTFLPFM SRLPTYYLTT FFVGEGLSGL LPALVALAQG SGLTTCVNVT EISDSVPSPV 
181:	PTRETDIAQG VPRALVSALP GMEAPLSHLE SRYLPAHFSP LVFFLLLSIM MACCLVAFFV 
241:	LQRQPRCWEA SVEDLLNDQV TLHSIRPREE NDLGPAGTVD SSQGQGYLEE KAAPCCPAHL 
301:	AFIYTLVAFV NALTNGMLPS VQTYSCLSYG PVAYHLAATL SIVANPLASL VSMFLPNRSL 
361:	LFLGVLSVLG TCFGGYNMAM AVMSPCPLLQ GHWGGEVLIV ASWVLFSGCL SYVKVMLGVV 
421:	LRDLSRSALL WCGAAVQLGS LLGALLMFPL VNVLRLFSSA DFCNLHCPA