rs9295338
This variant is located in the MPC1 gene.
▶ClinVar annotation
Benign★☆☆☆
1 submitterAbout MPC1
The protein encoded by this gene is part of an MPC1/MPC2 heterodimer that is responsible for transporting pyruvate into mitochondria. The encoded protein is found in the inner mitochondrial membrane. Defects in this gene are a cause of mitochondrial pyruvate carrier deficiency. Several transcript variants, some protein coding and one non-protein coding, have been found for this gene. [provided by RefSeq, Aug 2012]
View all MPC1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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