FLVCR1 Chromosome 1
FLVCR choline and heme transporter 1
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What This Gene Does
This gene encodes a member of the major facilitator superfamily of transporter proteins. The encoded protein is a heme transporter that may play a critical role in erythropoiesis by protecting developing erythroid cells from heme toxicity. This gene may play a role in posterior column ataxia with retinitis pigmentosa and the hematological disorder Diamond-Blackfan syndrome. [provided by RefSeq, Jan 2011]
Gene Info
Gene Group
Solute carrier family 49
Locus Type
gene with protein product
Location
1q32.3
Ensembl
ENSG00000162769
Associated Conditions (10)
Inborn genetic diseases
Posterior column ataxia-retinitis pigmentosa syndrome
Retinal dystrophy
FLVCR1-related disorder
Jeune thoracic dystrophy
Hereditary sensory and autonomic neuropathy
Retinitis pigmentosa
Short rib-polydactyly syndrome
Stargardt disease
Cervical cancer
Key Variants
RS111734301
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149887215
Conflicting classifications of pathogenicity
Posterior column ataxia-retinitis pigmentosa syndrome, Retinal dystrophy, Inborn genetic diseases
Health Risk
RS150645228
Conflicting classifications of pathogenicity
Health Risk
RS1665113651
Conflicting classifications of pathogenicity
Health Risk
RS200151282
Conflicting classifications of pathogenicity
Health Risk
RS2464382555
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS377087497
Conflicting classifications of pathogenicity
Posterior column ataxia-retinitis pigmentosa syndrome, Posterior column ataxia-retinitis pigmentosa syndrome
Health Risk
RS41296696
Conflicting classifications of pathogenicity
Posterior column ataxia-retinitis pigmentosa syndrome, FLVCR1-related disorder, Posterior column ataxia-retinitis pigmentosa syndrome
Health Risk
RS41297444
Conflicting classifications of pathogenicity
Posterior column ataxia-retinitis pigmentosa syndrome, Posterior column ataxia-retinitis pigmentosa syndrome
Health Risk
RS538343832
Conflicting classifications of pathogenicity
Posterior column ataxia-retinitis pigmentosa syndrome, Posterior column ataxia-retinitis pigmentosa syndrome
Health Risk
RS550517136
Conflicting classifications of pathogenicity
Posterior column ataxia-retinitis pigmentosa syndrome, Posterior column ataxia-retinitis pigmentosa syndrome
Health Risk
RS74607124
Conflicting classifications of pathogenicity
Posterior column ataxia-retinitis pigmentosa syndrome, Posterior column ataxia-retinitis pigmentosa syndrome
Health Risk
All Variants (61)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1358722147 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1468358104 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Posterior column ataxia-retinitis pigmentosa syndrome, Inborn genetic diseases |
| RS1558112968 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS1572027164 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS2464500607 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS267606821 | Health Risk | Pathogenic/Likely pathogenic | Posterior column ataxia-retinitis pigmentosa syndrome, Inborn genetic diseases, Posterior column ataxia-retinitis pigmentosa syndrome |
| RS372728084 | Health Risk | Pathogenic/Likely pathogenic | Posterior column ataxia-retinitis pigmentosa syndrome, Posterior column ataxia-retinitis pigmentosa syndrome |
| RS556788423 | Health Risk | Pathogenic/Likely pathogenic | Posterior column ataxia-retinitis pigmentosa syndrome, Retinal dystrophy, Retinitis pigmentosa |
| RS746482522 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS773064101 | Health Risk | Pathogenic/Likely pathogenic | Posterior column ataxia-retinitis pigmentosa syndrome, Posterior column ataxia-retinitis pigmentosa syndrome |
| RS777525949 | Health Risk | Pathogenic/Likely pathogenic | — |