SLC16A1 Chromosome 1
Solute carrier family 16 member 1
Upload your DNA to see your personal genotypes for variants in SLC16A1.
What This Gene Does
The protein encoded by this gene is a proton-linked monocarboxylate transporter that catalyzes the movement of many monocarboxylates, such as lactate and pyruvate, across the plasma membrane. Mutations in this gene are associated with erythrocyte lactate transporter defect. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2009]
Gene Info
Gene Group
Solute carrier family 16
Locus Type
gene with protein product
Location
1p13.2
Ensembl
ENSG00000155380
Associated Conditions (8)
SLC16A1-related disorder
Inborn genetic diseases
Exercise-induced hyperinsulinism
Metabolic myopathy due to lactate transporter defect
Monocarboxylate transporter 1 deficiency
autosomal recessive
Ketoacidosis due to monocarboxylate transporter-1 deficiency
autosomal dominant
Key Variants
RS140728650
Conflicting classifications of pathogenicity
SLC16A1-related disorder, Inborn genetic diseases, SLC16A1-related disorder
Health Risk
RS145916504
Conflicting classifications of pathogenicity
Exercise-induced hyperinsulinism, Exercise-induced hyperinsulinism
Health Risk
RS149491709
Conflicting classifications of pathogenicity
Health Risk
RS150246870
Conflicting classifications of pathogenicity
Exercise-induced hyperinsulinism, Exercise-induced hyperinsulinism
Health Risk
RS17852382
Conflicting classifications of pathogenicity
Exercise-induced hyperinsulinism, Exercise-induced hyperinsulinism
Health Risk
RS570476633
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS72552271
Conflicting classifications of pathogenicity
Metabolic myopathy due to lactate transporter defect, Metabolic myopathy due to lactate transporter defect
Health Risk
RS773196238
Conflicting classifications of pathogenicity
Exercise-induced hyperinsulinism, Exercise-induced hyperinsulinism
Health Risk
RS775755027
Conflicting classifications of pathogenicity
Exercise-induced hyperinsulinism, Exercise-induced hyperinsulinism
Health Risk
RS779279429
Conflicting classifications of pathogenicity
Exercise-induced hyperinsulinism, Exercise-induced hyperinsulinism
Health Risk
RS1570623881
Likely pathogenic
Exercise-induced hyperinsulinism, Exercise-induced hyperinsulinism
Health Risk
RS2101621602
Likely pathogenic
Health Risk
All Variants (28)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140728650 | Health Risk | Conflicting classifications of pathogenicity | SLC16A1-related disorder, Inborn genetic diseases, SLC16A1-related disorder |
| RS145916504 | Health Risk | Conflicting classifications of pathogenicity | Exercise-induced hyperinsulinism, Exercise-induced hyperinsulinism |
| RS149491709 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS150246870 | Health Risk | Conflicting classifications of pathogenicity | Exercise-induced hyperinsulinism, Exercise-induced hyperinsulinism |
| RS17852382 | Health Risk | Conflicting classifications of pathogenicity | Exercise-induced hyperinsulinism, Exercise-induced hyperinsulinism |
| RS570476633 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS72552271 | Health Risk | Conflicting classifications of pathogenicity | Metabolic myopathy due to lactate transporter defect, Metabolic myopathy due to lactate transporter defect |
| RS773196238 | Health Risk | Conflicting classifications of pathogenicity | Exercise-induced hyperinsulinism, Exercise-induced hyperinsulinism |
| RS775755027 | Health Risk | Conflicting classifications of pathogenicity | Exercise-induced hyperinsulinism, Exercise-induced hyperinsulinism |
| RS779279429 | Health Risk | Conflicting classifications of pathogenicity | Exercise-induced hyperinsulinism, Exercise-induced hyperinsulinism |
| RS1570623881 | Health Risk | Likely pathogenic | Exercise-induced hyperinsulinism, Exercise-induced hyperinsulinism |
| RS2101621602 | Health Risk | Likely pathogenic | — |
| RS2525134632 | Health Risk | Likely pathogenic | — |
| RS606231309 | Health Risk | Likely pathogenic | Monocarboxylate transporter 1 deficiency, autosomal recessive, Ketoacidosis due to monocarboxylate transporter-1 deficiency |
| RS606231312 | Health Risk | Likely pathogenic | Monocarboxylate transporter 1 deficiency, autosomal dominant, Monocarboxylate transporter 1 deficiency |
| RS1383418191 | Health Risk | Pathogenic | SLC16A1-related disorder, SLC16A1-related disorder |
| RS1553208520 | Health Risk | Pathogenic | — |
| RS1570619302 | Health Risk | Pathogenic | Ketoacidosis due to monocarboxylate transporter-1 deficiency, Exercise-induced hyperinsulinism, Ketoacidosis due to monocarboxylate transporter-1 deficiency |
| RS2525088360 | Health Risk | Pathogenic | SLC16A1-related disorder, SLC16A1-related disorder |
| RS387906403 | Health Risk | Pathogenic | Exercise-induced hyperinsulinism, Exercise-induced hyperinsulinism |
| RS557581298 | Health Risk | Pathogenic | SLC16A1-related disorder, SLC16A1-related disorder |
| RS577209023 | Health Risk | Pathogenic | — |
| RS606231172 | Health Risk | Pathogenic | Exercise-induced hyperinsulinism, Exercise-induced hyperinsulinism |
| RS606231300 | Health Risk | Pathogenic | Monocarboxylate transporter 1 deficiency, autosomal dominant, Monocarboxylate transporter 1 deficiency |
| RS606231310 | Health Risk | Pathogenic | Monocarboxylate transporter 1 deficiency, autosomal recessive, Exercise-induced hyperinsulinism |
| RS778610421 | Health Risk | Pathogenic | — |
| RS606231301 | Health Risk | Pathogenic/Likely pathogenic | Monocarboxylate transporter 1 deficiency, autosomal dominant, Monocarboxylate transporter 1 deficiency |
| RS606231311 | Health Risk | Pathogenic/Likely pathogenic | Monocarboxylate transporter 1 deficiency, autosomal dominant, Metabolic myopathy due to lactate transporter defect |