Gene Symbol | HESX1 |
Entrez Gene ID | 8820 |
Full Name | HESX homeobox 1 |
Synonyms | ANF,CPHD5,RPX |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(Human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Septooptic dysplasia, 182230 (3); Pituitary hormone deficiency, combined, 5, 182230 (3); Growth hormone deficiency with pituitary anomalies, 182230 (3) |