solute carrier family 52, riboflavin transporter, member 3 [Homo sapie - Protein

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Three cases of adult-onset Brown-Vialetto-Van Laere syndrome: Novel variants in SLC52A3 gene and MRI abnormalities. [Neuromuscul Disord. 2021]
Three cases of adult-onset Brown-Vialetto-Van Laere syndrome: Novel variants in SLC52A3 gene and MRI abnormalities.
Carey G, Kuchcinski G, Gauvrit F, Defebvre L, Nguyen S, Dhaenens CM, Dessein AF, Vianey-Saban C, Acquaviva C, Tard C. Neuromuscul Disord. 2021 Aug; 31(8):752-755. Epub 2021 Jun 26.
Promotion of rs3746804 (p. L267P) polymorphism to intracellular SLC52A3a trafficking and riboflavin transportation in esophageal cancer cells. [Amino Acids. 2021]
Promotion of rs3746804 (p. L267P) polymorphism to intracellular SLC52A3a trafficking and riboflavin transportation in esophageal cancer cells.
Long L, Pang XX, Zeng FM, Zhan XH, Xie YH, Pan F, Wang W, Liao LD, Xu XE, Li B, et al. Amino Acids. 2021 Aug; 53(8):1197-1209. Epub 2021 Jul 5.
Brown-Vialetto-Van Laere and Fazio-Londe syndromes: SLC52A3 mutations with puzzling phenotypes and inheritance. [Eur J Neurol. 2021]
Brown-Vialetto-Van Laere and Fazio-Londe syndromes: SLC52A3 mutations with puzzling phenotypes and inheritance.
Gayathri S, Gowda VK, Udhayabanu T, O'Callaghan B, Efthymiou S, Varalakshmi P, Benakappa N, Houlden H, Ashokkumar B. Eur J Neurol. 2021 Mar; 28(3):945-954. Epub 2021 Jan 5.

RefSeq genomic sequence
See the genomic reference sequence for the SLC52A3 gene (NG_027687.2).
RefSeq mRNA
See reference mRNA sequence for the SLC52A3 gene (NM_033409.4).
RefSeq protein isoforms
See 9 reference sequence protein isoforms for the SLC52A3 gene.

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SNP
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NP_212134 [Domain Mapping of Disease Mut...]
NP_212134
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
GlyGen glycoinformatics resource
solute carrier family 52 member 3 / SLC52A3 protein [Guide to Pharmacology]
solute carrier family 52 member 3 / SLC52A3 protein
Guide to Pharmacology
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

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