CBY1 Chromosome 22

Chibby 1, beta catenin antagonist

2 variants 2 Health Risk

Upload your DNA to see your personal genotypes for variants in CBY1.

What This Gene Does

Beta-catenin is a transcriptional activator and oncoprotein involved in the development of several cancers. The protein encoded by this gene interacts directly with the C-terminal region of beta-catenin, inhibiting oncogenic beta-catenin-mediated transcriptional activation by competing with transcription factors for binding to beta-catenin. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Associated Conditions (1)

Joubert syndrome

Key Variants

RS1318058212

Pathogenic

Joubert syndrome, Joubert syndrome

Health Risk

RS747514855

Pathogenic

Joubert syndrome, Joubert syndrome

Health Risk

All Variants (2)

RSID	Category	Clinical Significance	Conditions
RS1318058212	Health Risk	Pathogenic	Joubert syndrome, Joubert syndrome
RS747514855	Health Risk	Pathogenic	Joubert syndrome, Joubert syndrome