PROP1 (PROP paired-like homeobox 1) is a pituitary-specific transcription factor essential for anterior pituitary development and hormone production 1. As a paired-like homeodomain transcription factor, PROP1 controls pituitary ontogeny and regulates the differentiation of multiple pituitary cell types including somatotropes, lactotropes, thyrotropes, and gonadotropes 23. The protein functions through sequence-specific DNA binding and transcriptional regulation during central nervous system development. Biallelic mutations in PROP1 are currently the most frequently recognized genetic cause of combined pituitary hormone deficiency (CPHD) worldwide 4. Patients with PROP1 mutations typically present with deficiencies in growth hormone, thyroid-stimulating hormone, prolactin, and gonadotropins, with some developing late ACTH deficiency requiring lifelong surveillance 43. The condition is inherited in an autosomal recessive pattern and occurs more frequently among offspring of consanguineous parents 4. Neuroimaging typically shows a normal pituitary stalk and posterior lobe positioning, while the anterior pituitary may be hypoplastic, normal, or occasionally enlarged 4. PROP1 mutations also contribute to central hypothyroidism and hypogonadotropic hypogonadism 56.
No tissue expression data available for this gene.