SLC52A3

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

Solute carrier family 52 (riboflavin transporter), member 3, formerly known as chromosome 20 open reading frame 54 and riboflavin transporter 2, is a protein that in humans is encoded by the SLC52A3 gene.[5][6]

AliasesSLC52A3, BVVLS, BVVLS1, C20orf54, RFT2, RFVT3, bA371L19.1, hRFT2, solute carrier family 52 member 3
End776,015 bp[1]
Quick facts Identifiers, Aliases ...
SLC52A3
Identifiers
AliasesSLC52A3, BVVLS, BVVLS1, C20orf54, RFT2, RFVT3, bA371L19.1, hRFT2, solute carrier family 52 member 3
External IDsOMIM: 613350; MGI: 1916948; HomoloGene: 12324; GeneCards: SLC52A3; OMA:SLC52A3 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_033409
NM_001370085
NM_001370086

NM_001164819
NM_001164820
NM_027172

RefSeq (protein)

NP_212134
NP_001357014
NP_001357015

NP_001158291
NP_001158292
NP_081448

Location (UCSC)Chr 20: 0.76 – 0.78 MbChr 2: 151.84 – 151.85 Mb
PubMed search[3][4]
Wikidata
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Function

This locus likely encodes a transmembrane protein that may function as a riboflavin transporter.[5][6]

Clinical significance

Mutations at this locus have been associated with Fazio–Londe disease and Brown-Vialetto-Van Laere syndrome.[7][8]

References

Further reading

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