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.
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Protein Aliases: Anterior-restricted homeobox protein; hAnf; homeo box gene expressed in ES cells; Homeobox expressed in ES cells 1; Homeobox protein ANF; Rathke pouch homeo box; Rathke pouch homeobox
Gene Aliases: ANF; CPHD5; HANF; HES-1; HESX1; RGD1563858; RPX