PROP1

PROP paired-like homeobox 1

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.

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.

Cytogenetic Location: 5q35.3, which is the long (q) arm of chromosome 5 at position 35.3

Molecular Location: base pairs 177,992,235 to 177,996,242 on chromosome 5 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 5q35.3, which is the long (q) arm of chromosome 5 at position 35.3
  • homeobox protein prophet of Pit-1
  • pituitary-specific homeodomain factor
  • PROP-1
  • PROP1_HUMAN
  • prophet of Pit1, paired-like homeodomain transcription factor