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POU1F1 - POU class 1 homeobox 1
- Synonym(s) : GHF-1, growth hormone factor 1, PIT-1, pituitary transcript factor 1, POU1F1a
- Previous symbols and names : PIT1, POU domain class 1, transcription factor 1
- Type : gene with protein product
- Chromosomal location : 3p11.2
- OMIM: 173110
- HGNC: 9210
- UniProtKB: P28069
- Genatlas: POU1F1
- GenCC: POU1F1
- Ensembl: ENSG00000064835
- IUPHAR-DB: -
- Reactome: -
- LOVD: POU1F1
Diseases list
- Disease-causing germline mutation(s) in Combined pituitary hormone deficiencies, genetic forms
ORPHA:95494 
- Disease-causing germline mutation(s) in Hypothyroidism due to deficient transcription factors involved in pituitary development or function
ORPHA:226307 - Disease-causing germline mutation(s) (gain of function) in Isolated growth hormone deficiency type II
ORPHA:231679
: AssessedAdditional information
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