POU1F1 Chromosome 3
POU class 1 homeobox 1
Upload your DNA to see your personal genotypes for variants in POU1F1.
What This Gene Does
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]
Gene Info
Gene Group
POU class homeoboxes and pseudogenes
Locus Type
gene with protein product
Location
3p11.2
Ensembl
ENSG00000064835
Associated Conditions (8)
Pituitary hormone deficiency
combined
1
POU1F1-related disorder
Cholangiocarcinoma
Combined pituitary hormone deficiencies
genetic form
Inborn genetic diseases
Key Variants
RS104893755
Conflicting classifications of pathogenicity
Pituitary hormone deficiency, combined, 1
Health Risk
RS1064796954
Conflicting classifications of pathogenicity
Pituitary hormone deficiency, combined, 1
Health Risk
RS143373007
Conflicting classifications of pathogenicity
Pituitary hormone deficiency, combined, 1
Health Risk
RS144708108
Conflicting classifications of pathogenicity
Health Risk
RS1706526416
Conflicting classifications of pathogenicity
Pituitary hormone deficiency, combined, 1
Health Risk
RS182127067
Conflicting classifications of pathogenicity
Health Risk
RS199746697
Conflicting classifications of pathogenicity
Pituitary hormone deficiency, combined, 1
Health Risk
RS201406891
Conflicting classifications of pathogenicity
Cholangiocarcinoma, Cholangiocarcinoma
Health Risk
RS35560664
Conflicting classifications of pathogenicity
Pituitary hormone deficiency, combined, 1
Health Risk
RS374875206
Conflicting classifications of pathogenicity
Pituitary hormone deficiency, combined, 1
Health Risk
RS4988460
Conflicting classifications of pathogenicity
Pituitary hormone deficiency, combined, 1
Health Risk
RS746709336
Conflicting classifications of pathogenicity
Health Risk
All Variants (53)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS104893764 | Health Risk | Pathogenic/Likely pathogenic | Pituitary hormone deficiency, combined, 1 |
| RS104893765 | Health Risk | Pathogenic/Likely pathogenic | Pituitary hormone deficiency, combined, 1 |
| RS780359925 | Health Risk | Pathogenic/Likely pathogenic | Combined pituitary hormone deficiencies, genetic form, Combined pituitary hormone deficiencies |