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SLC52A1

Synonyms
GPCR42, GPR172B, PAR2, RBFVD, RFT1, RFVT1, hRFT1, huPAR-2
External resources
Summary
Biological redox reactions require electron donors and acceptor. Vitamin B2 is the source for the flavin in flavin adenine dinucleotide (FAD) and flavin mononucleotide (FMN) which are common redox reagents. This gene encodes a member of the riboflavin (vitamin B2) transporter family. Haploinsufficiency of this protein can cause maternal riboflavin deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
290
Likely benign
834
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on SLC52A1 gene.

Phenotype class
Patients in 3billion (%)

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