Gene Symbol | POU1F1 |
Entrez Gene ID | 5449 |
Full Name | POU class 1 homeobox 1 |
Synonyms | CPHD1,GHF-1,PIT1,POU1F1a,Pit-1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the POU family of transcription factors that regulate mammalian development. The protein regulates expression of several genes involved in pituitary development and hormone expression. Mutations in this genes result in combined pituitary hormone deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Pituitary hormone deficiency, combined, 1, 613038 (3) |