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Chromosome 12 open reading frame 43 (C12orf43)

Target: C12orf43
Molecular classification: Other (protein-coding gene, unclassified)

Overview

Chromosome 12 open reading frame 43 (C12orf43) is a human protein-coding gene of currently unclear biochemical function. Predictive annotations suggest roles in developmental biology, specifically in Spemann organizer formation and the negative regulation of Wnt signaling, and genetic association studies have linked variants in C12orf43 with increased risk of coronary artery disease in some populations. There is no evidence currently designating C12orf43 as a classical therapeutic target such as a receptor, enzyme, transporter, or transcription factor[2][4][5][6][7].

Other names: C12orf43

Biological functions

Potential involvement in Spemann organizer formationPotential negative regulation of Wnt signaling pathway

Disease associations

Potential association with coronary artery disease (based on genetic association studies)

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