PROP1 Chromosome 5
PROP paired-like homeobox 1
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What This Gene Does
This gene encodes a paired-like homeodomain transcription factor in the developing pituitary gland. Expression occurs prior to and is required for expression of pou domain transcription factor 1, which is responsible for pituitary development and hormone expression. Mutations in this gene have been associated with combined pituitary hormone deficiency-2 as well as deficiencies in luteinizing hormone, follicle-stimulating hormone, growth hormone, prolactin, and thyroid-stimulating hormone. [provided by RefSeq, Sep 2011]
Gene Info
Gene Group
PRD class homeoboxes and pseudogenes
Locus Type
gene with protein product
Location
5q35.3
Ensembl
ENSG00000175325
Associated Conditions (11)
Pituitary hormone deficiency
combined
2
PROP1-related disorder
Inborn genetic diseases
Amenorrhea
Combined pituitary hormone deficiencies
genetic form
See cases
46
XY partial gonadal dysgenesis
Key Variants
RS140207251
Conflicting classifications of pathogenicity
Pituitary hormone deficiency, combined, 2
Health Risk
RS143790367
Conflicting classifications of pathogenicity
Pituitary hormone deficiency, combined, 2
Health Risk
RS144314831
Conflicting classifications of pathogenicity
Pituitary hormone deficiency, combined, 2
Health Risk
RS145883811
Conflicting classifications of pathogenicity
Pituitary hormone deficiency, combined, 2
Health Risk
RS150629697
Conflicting classifications of pathogenicity
Pituitary hormone deficiency, combined, 2
Health Risk
RS200977367
Conflicting classifications of pathogenicity
Health Risk
RS2233783
Conflicting classifications of pathogenicity
Pituitary hormone deficiency, combined, 2
Health Risk
RS2233787
Conflicting classifications of pathogenicity
Pituitary hormone deficiency, combined, 2
Health Risk
RS533923552
Conflicting classifications of pathogenicity
Pituitary hormone deficiency, combined, 2
Health Risk
RS535993919
Conflicting classifications of pathogenicity
Pituitary hormone deficiency, combined, 2
Health Risk
RS73807328
Conflicting classifications of pathogenicity
Pituitary hormone deficiency, combined, 2
Health Risk
RS758911793
Conflicting classifications of pathogenicity
Pituitary hormone deficiency, combined, 2
Health Risk
All Variants (71)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2480293034 | Health Risk | Pathogenic | — |
| RS587776681 | Health Risk | Pathogenic | Pituitary hormone deficiency, combined, 2 |
| RS587776682 | Health Risk | Pathogenic | Pituitary hormone deficiency, combined, 2 |
| RS587776683 | Health Risk | Pathogenic | Pituitary hormone deficiency, combined, 2 |
| RS762529663 | Health Risk | Pathogenic | Pituitary hormone deficiency, combined, 2 |
| RS780134343 | Health Risk | Pathogenic | Pituitary hormone deficiency, combined, 2 |
| RS1057517027 | Health Risk | Pathogenic/Likely pathogenic | Pituitary hormone deficiency, combined, 2 |
| RS121917839 | Health Risk | Pathogenic/Likely pathogenic | Pituitary hormone deficiency, combined, 2 |
| RS121917840 | Health Risk | Pathogenic/Likely pathogenic | Pituitary hormone deficiency, combined, 2 |
| RS137853100 | Health Risk | Pathogenic/Likely pathogenic | Pituitary hormone deficiency, combined, 2 |
| RS140016178 | Health Risk | Pathogenic/Likely pathogenic | Combined pituitary hormone deficiencies, genetic form, Pituitary hormone deficiency |
| RS146918863 | Health Risk | Pathogenic/Likely pathogenic | Pituitary hormone deficiency, combined, 2 |
| RS1554182405 | Health Risk | Pathogenic/Likely pathogenic | Pituitary hormone deficiency, combined, 2 |
| RS1554182514 | Health Risk | Pathogenic/Likely pathogenic | Pituitary hormone deficiency, combined, 2 |
| RS1554182645 | Health Risk | Pathogenic/Likely pathogenic | Pituitary hormone deficiency, combined, 2 |
| RS193922688 | Health Risk | Pathogenic/Likely pathogenic | Pituitary hormone deficiency, combined, 2 |
| RS2113064591 | Health Risk | Pathogenic/Likely pathogenic | Pituitary hormone deficiency, combined, 2 |
| RS2480292680 | Health Risk | Pathogenic/Likely pathogenic | Pituitary hormone deficiency, combined, 2 |
| RS758285552 | Health Risk | Pathogenic/Likely pathogenic | Pituitary hormone deficiency, combined, 2 |
| RS766673446 | Health Risk | Pathogenic/Likely pathogenic | Pituitary hormone deficiency, combined, 2 |
| RS786204663 | Health Risk | Pathogenic/Likely pathogenic | Pituitary hormone deficiency, combined, 2 |