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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: hAnf; homeo box gene expressed in ES cells; Homeobox expressed in ES cells 1; Homeobox protein ANF; Rathke pouch homeobox
基因别名: ANF; CPHD5; HANF; HESX1; RGD1563858; RPX
UniProt ID: (Human) Q9UBX0
Entrez Gene ID: (Human) 8820, (Rat) 498575