HESX1 encodes a conserved homeobox protein that is a transcriptional repressor in the developing forebrain and pituitary gland. Mutations in HESX1 are associated with septooptic dysplasia, HESX1-related growth hormone deficiency, and combined pituitary hormone deficiency. HESX1 (HESX Homeobox 1) is a Protein Coding gene. Diseases associated with HESX1 include Septooptic Dysplasia and Hesx1-Related Combined Pituitary Hormone Deficiency. Among its related pathways are Ectoderm Differentiation and Signaling pathways regulating pluripotency of stem cells.
