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SLC16A1

Synonyms
HHF7, MCT, MCT1, MCT1D
External resources
Summary
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.

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
4,117
Likely benign
1,293
Benign
460

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on SLC16A1 gene.

Phenotype class
Patients in 3billion (%)

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