The Function of PROP1
Possibly involved in the ontogenesis of pituitary gonadotropes, as well as somatotropes, lactotropes and caudomedial thyrotropes.
Protein names
Recommended name:
Homeobox protein prophet of Pit-1Short name:
PROP-1Alternative name(s):
Pituitary-specific homeodomain factor- RS7445271 (PROP1) ??
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Top Gene-Substance Interactions
Substances That Increase PROP1
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Substances That Decrease PROP1
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Advanced Summary
combined pituitary hormone deficiency At least 25 mutations in the PROP1 gene have been found to cause combined pituitary hormone deficiency. The most common mutation deletes two DNA building blocks in the PROP1 gene (written as 301-302delAG). This deletion leads to the production of an abnormally short protein that cannot function properly. The shortened protein is less able to control the activity of other genes, which reduces pituitary cell differentiation and prevents the release of hormones from the pituitary gland. A lack of these hormones can cause short stature, delayed or absent puberty, and other signs and symptoms of combined pituitary hormone deficiency.
The PROP1 gene provides instructions for making a protein that helps control the activity of many other genes. On the basis of this action, the PROP1 protein is known as a transcription factor. This protein is found only in the pituitary gland, which is located at the base of the brain. The pituitary gland releases hormones needed for growth, reproduction, and other critical body functions. The PROP1 protein helps in the specialization (differentiation) of cell types within the pituitary gland.
Conditions with Increased Gene Activity
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Conditions with Decreased Gene Activity
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Technical
The following transcription factors affect gene expression:
Tissue specificity:
Expressed specifically in embryonic pituitary.
Molecular Function:
- Chromatin Binding
- Rna Polymerase Ii Distal Enhancer Sequence-Specific Dna Binding
- Transcriptional Activator Activity, Rna Polymerase Ii Distal Enhancer Sequence-Specific Binding
- Transcriptional Repressor Activity, Rna Polymerase Ii Distal Enhancer Sequence-Specific Binding
Biological Processes:
- Blood Vessel Development
- Canonical Wnt Signaling Pathway
- Central Nervous System Development
- Dorsal/Ventral Pattern Formation
- Hypophysis Morphogenesis
- Hypothalamus Cell Differentiation
- Negative Regulation Of Apoptotic Process
- Somatotropin Secreting Cell Differentiation