CS Chromosome 12

Citrate synthase
1 variant 1 Health Risk

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What This Gene Does
The protein encoded by this gene is a Krebs tricarboxylic acid cycle enzyme that catalyzes the synthesis of citrate from oxaloacetate and acetyl coenzyme A. The enzyme is found in nearly all cells capable of oxidative metablism. This protein is nuclear encoded and transported into the mitochondrial matrix, where the mature form is found. [provided by RefSeq, Jul 2008]
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS139054969 Health Risk Conflicting classifications of pathogenicity
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