rs112012777
This variant is located in the ACSS2 gene.
▶ClinVar annotation
About ACSS2
This gene encodes a cytosolic enzyme that catalyzes the activation of acetate for use in lipid synthesis and energy generation. The protein acts as a monomer and produces acetyl-CoA from acetate in a reaction that requires ATP. Expression of this gene is regulated by sterol regulatory element-binding proteins, transcription factors that activate genes required for the synthesis of cholesterol and unsaturated fatty acids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]
View all ACSS2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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