Aliases for HESX1 Gene
External Ids for HESX1 Gene
Previous GeneCards Identifiers for HESX1 Gene
This gene encodes a conserved homeobox protein that is a transcriptional repressor in the developing forebrain and pituitary gland. Mutations in this gene are associated with septooptic dysplasia, HESX1-related growth hormone deficiency, and combined pituitary hormone deficiency. [provided by RefSeq, Jul 2008]
GeneCards Summary for HESX1 Gene
HESX1 (HESX Homeobox 1) is a Protein Coding gene. Diseases associated with HESX1 include Septooptic Dysplasia and Pituitary Stalk Interruption Syndrome. Among its related pathways are Ectoderm Differentiation and Signaling pathways regulating pluripotency of stem cells. GO annotations related to this gene include sequence-specific DNA binding and protein C-terminus binding. An important paralog of this gene is VSX2.
UniProtKB/Swiss-Prot for HESX1 Gene
Required for the normal development of the forebrain, eyes and other anterior structures such as the olfactory placodes and pituitary gland. Possible transcriptional repressor. Binds to the palindromic PIII sequence, 5-AGCTTGAGTCTAATTGAATTAACTGTAC-3. HESX1 and PROP1 bind as heterodimers on this palindromic site, and, in vitro, HESX1 can antagonize PROP1 activation (By similarity).