Orthodenticle homeobox 1 (OTX1)

Orthodenticle homeobox 1 (OTX1) is a conserved homeodomain-containing transcription factor of the bicoid sub-family that binds DNA and regulates the expression of genes involved in brain and sensory organ development[4][7][11][2]. OTX1 is essential for central nervous system and sensory organ formation; in mouse models, loss of OTX1 can cause brain malformations and epilepsy[4][7]. In humans, OTX1 is overexpressed in multiple cancers, including bladder, breast, colorectal, and liver cancers, where it promotes cell proliferation, cell cycle progression, and tumor cell motility, and its high expression is associated with poor prognosis, particularly in bladder cancer[1]. OTX1 is also linked to neurodevelopmental disorders such as autism spectrum disorder and agnathia-otocephaly complex[4]. No drugs are currently known to specifically target OTX1, but as a regulator of proliferation and differentiation, it is considered a possible therapeutic target and a prognostic biomarker in oncology[1].

Other names

Homeobox protein OTX1Orthodenticle homolog 1OTX1