SIX homeobox 6 (SIX6)

SIX homeobox 6 (SIX6) is a homeobox transcription factor that plays a critical role in eye development, particularly in the regulation of retinal progenitor cell proliferation and differentiation. It is a member of the evolutionary conserved SIX family, defined by a homeobox DNA-binding domain and the SIX protein-protein interaction domain. SIX6 expression is essential for early retinal determination, and disruption results in significant eye malformations. Mutations in SIX6 are associated with congenital disorders such as microphthalmia with cataract type 2, and genetic variants have been linked to increased risk of primary open-angle glaucoma. While primarily acting as a regulator in embryogenesis and ocular development, aberrant expression or epigenetic regulation of SIX6 and related SIX family members has been implicated in oncogenesis, though SIX6 itself is not currently a direct therapeutic target.

Other names

Homeobox protein SIX6OPTX2Six9Homeodomain protein OPTX2Optic homeobox 2Sine oculis homeobox homolog 6MCOPCT2ODRMDsine oculis homeobox protein 6sine oculis homeobox-like protein 6

Not applicable (no drugs specifically target SIX6 reported to date)