rs1049434
This is a variant in the SLC16A1 gene that changes a aspartate to an glutamate.
▶ClinVar annotation
Exercise-induced hyperinsulinism (HHF7); Ketoacidosis due to monocarboxylate transporter-1 deficiency; Metabolic myopathy due to lactate transporter defect; not specified
View on ClinVar →▶Research that mentions this SNP (1)
▶Polymorphisms of monocarboxylate transporter genes are associated with clinical outcomes in patients with colorectal cancerAssociationN=697Fei Fei et al.(2015)· Journal of Cancer Research and Clinical Oncology
This study examined associations between nine SNPs in monocarboxylate transporter genes (MCT1, MCT2, MCT4) and clinical outcomes in 697 Chinese colorectal cancer patients. MCT1 rs1049434 was significantly associated with overall survival (HR 0.74, P=0.046), while MCT2 rs995343 was associated with recurrence-free survival (HR 0.74, P=0.036). A cumulative effect analysis showed that patients with three unfavorable genotypes had a 2.06-fold increased recurrence risk compared to those with no unfavorable genotypes.
About SLC16A1
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]
View all SLC16A1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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