Riboflavin and CoQ disorders (Homo sapiens)

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Bibliography

1. Yao Y, Yonezawa A, Yoshimatsu H, Masuda S, Katsura T, Inui K.; ''Identification and comparative functional characterization of a new human riboflavin transporter hRFT3 expressed in the brain.''; PubMed Europe PMC Scholia
2. Barile M, Giancaspero TA, Brizio C, Panebianco C, Indiveri C, Galluccio M, Vergani L, Eberini I, Gianazza E; ''Biosynthesis of flavin cofactors in man: implications in health and disease.''; Curr Pharm Des, 2013 PubMed Europe PMC Scholia
3. Bosch AM, Abeling NG, Ijlst L, Knoester H, van der Pol WL, Stroomer AE, Wanders RJ, Visser G, Wijburg FA, Duran M, Waterham HR.; ''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.''; PubMed Europe PMC Scholia
4. Forsgren M, Attersand A, Lake S, Grünler J, Swiezewska E, Dallner G, Climent I.; ''Isolation and functional expression of human COQ2, a gene encoding a polyprenyl transferase involved in the synthesis of CoQ.''; PubMed Europe PMC Scholia
5. Quinzii CM, Kattah AG, Naini A, Akman HO, Mootha VK, DiMauro S, Hirano M; ''Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation.''; Neurology, 2005 PubMed Europe PMC Scholia
6. Bosch AM, Abeling NG, Ijlst L, Knoester H, van der Pol WL, Stroomer AE, Wanders RJ, Visser G, Wijburg FA, Duran M, Waterham HR; ''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.''; J Inherit Metab Dis, 2011 PubMed Europe PMC Scholia
7. Nenad Blau, Carlo Dionisi Vici, K Michael Gibson, Marinus Duran; ''Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases''; Springer, 2014
8. Le Ber I, Dubourg O, Benoist JF, Jardel C, Mochel F, Koenig M, Brice A, Lombès A, Dürr A; ''Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1.''; Neurology, 2007 PubMed Europe PMC Scholia
9. Green P, Wiseman M, Crow YJ, Houlden H, Riphagen S, Lin JP, Raymond FL, Childs AM, Sheridan E, Edwards S, Josifova DJ.; ''Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54.''; PubMed Europe PMC Scholia
10. Tekle M, Turunen M, Dallner G, Chojnacki T, Swiezewska E.; ''Investigation of coenzyme Q biosynthesis in human fibroblast and HepG2 cells.''; PubMed Europe PMC Scholia
11. Quinzii C, Naini A, Salviati L, Trevisson E, Navas P, Dimauro S, Hirano M; ''A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency.''; Am J Hum Genet, 2006 PubMed Europe PMC Scholia
12. Green P, Wiseman M, Crow YJ, Houlden H, Riphagen S, Lin JP, Raymond FL, Childs AM, Sheridan E, Edwards S, Josifova DJ; ''Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54.''; Am J Hum Genet, 2010 PubMed Europe PMC Scholia
13. Yonezawa A, Masuda S, Katsura T, Inui K.; ''Identification and functional characterization of a novel human and rat riboflavin transporter, RFT1.''; PubMed Europe PMC Scholia
14. Mollet J, Delahodde A, Serre V, Chretien D, Schlemmer D, Lombes A, Boddaert N, Desguerre I, de Lonlay P, de Baulny HO, Munnich A, Rötig A; ''CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures.''; Am J Hum Genet, 2008 PubMed Europe PMC Scholia
15. Yoshimatsu H, Yonezawa A, Yao Y, Sugano K, Nakagawa S, Omura T, Matsubara K.; ''Functional involvement of RFVT3/SLC52A3 in intestinal riboflavin absorption.''; PubMed Europe PMC Scholia
16. Stefely JA, Reidenbach AG, Ulbrich A, Oruganty K, Floyd BJ, Jochem A, Saunders JM, Johnson IE, Minogue CE, Wrobel RL, Barber GE, Lee D, Li S, Kannan N, Coon JJ, Bingman CA, Pagliarini DJ; ''Mitochondrial ADCK3 employs an atypical protein kinase-like fold to enable coenzyme Q biosynthesis.''; Mol Cell, 2015 PubMed Europe PMC Scholia

History

External references

DataNodes

Name	Type	Database reference	Comment
FAD	Metabolite	CHEBI:16238 (ChEBI)
FMN	Metabolite	CHEBI:17621 (ChEBI)
RIB	Metabolite	CHEBI:17015 (ChEBI)
SLC52A1	Protein	Q9NWF4 (Uniprot-TrEMBL)
SLC52A2	Protein	Q9HAB3 (Uniprot-TrEMBL)
SLC52A3	Protein	SLC52A3 (Uniprot-TrEMBL)

Annotated Interactions

Source	Target	Type	Database reference	Comment
FAD		TBar	R-HSA-3165230 (Reactome)
FMN		TBar	R-HSA-3165230 (Reactome)
RIB	RIB	mim-translocation	35017 (Rhea)	The water-soluble vitamin riboflavin (RIB, vitamin B2) is essential for normal cellular functions. Three human riboflavin transporters mediate the transport of RIB into cells and play an important role in RIB homeostasis. The transporters are assigned to a new sub-family of the SLC superfamily; SLC52A1, SLC52A2 and SLC52A3 (aka RFVT1, RFVT2 and RFVT3 respectively). Solute carrier family 52, riboflavin transporter, member 1 (SLC52A1, RFVT1) is widely expressed with highest expression in the testis, placenta and small intestine (Yonezawa et al. 2008). Solute carrier family 52, riboflavin transporter, member 2 (SLC52A2, RFVT2) is highly expressed in brain, foetal brain and salivary gland (Yao et al. 2010). Solute carrier family 52, riboflavin transporter, member 3 (SLC52A3, RFVT3) transports riboflavin (RIB) from the lumen into small intestine epithelial cells (Yoshimatsu et al. 2014). Activity is inhibited by riboflavin analogues such as flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD) (Yao et al. 2010). Defects in SLC52A3 cause Brown-Vialetto-Van Laere syndrome type 1 (BVVLS1; MIM:211530). BVVLS1 is a rare autosomal recessive neurologic disorder characterised by sensorineural hearing loss and a variety of cranial nerve palsies (Green et al. 2010). Defects in SLC52A3 also cause Fazio-Londe disease (FALOND; MIM:211500), a rare neurological disease characterised by progressive weakness of the muscles innervated by cranial nerves located at the lower brain stem (Bosch et al. 2011).
		mim-catalysis	R-HSA-3165230 (Reactome)