SLC52A1 Chromosome 17
Solute carrier family 52 member 1
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What This Gene Does
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. [provided by RefSeq, Jan 2013]
Gene Info
Gene Group
"Solute carrier family 52|Flavoproteins"
Locus Type
gene with protein product
Location
17p13.2
Ensembl
ENSG00000132517
Associated Conditions (3)
Ariboflavinosis
Vitamin B2 deficiency
Maternal riboflavin deficiency
Key Variants
RS141935493
Conflicting classifications of pathogenicity
Ariboflavinosis, Vitamin B2 deficiency, Ariboflavinosis
Health Risk
RS377338075
Conflicting classifications of pathogenicity
Vitamin B2 deficiency, Vitamin B2 deficiency
Health Risk
RS537206157
Conflicting classifications of pathogenicity
Vitamin B2 deficiency, Vitamin B2 deficiency
Health Risk
RS747887020
Conflicting classifications of pathogenicity
Vitamin B2 deficiency, Vitamin B2 deficiency
Health Risk
RS767702906
Conflicting classifications of pathogenicity
Vitamin B2 deficiency, Vitamin B2 deficiency
Health Risk
RS772093353
Conflicting classifications of pathogenicity
Vitamin B2 deficiency, Maternal riboflavin deficiency, Vitamin B2 deficiency
Health Risk
RS2143437310
Pathogenic
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141935493 | Health Risk | Conflicting classifications of pathogenicity | Ariboflavinosis, Vitamin B2 deficiency, Ariboflavinosis |
| RS377338075 | Health Risk | Conflicting classifications of pathogenicity | Vitamin B2 deficiency, Vitamin B2 deficiency |
| RS537206157 | Health Risk | Conflicting classifications of pathogenicity | Vitamin B2 deficiency, Vitamin B2 deficiency |
| RS747887020 | Health Risk | Conflicting classifications of pathogenicity | Vitamin B2 deficiency, Vitamin B2 deficiency |
| RS767702906 | Health Risk | Conflicting classifications of pathogenicity | Vitamin B2 deficiency, Vitamin B2 deficiency |
| RS772093353 | Health Risk | Conflicting classifications of pathogenicity | Vitamin B2 deficiency, Maternal riboflavin deficiency, Vitamin B2 deficiency |
| RS2143437310 | Health Risk | Pathogenic | — |