POU1F1

The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.

Transcription factor involved in the specification of the lactotrope, somatotrope, and thyrotrope phenotypes in the developing anterior pituitary. Specifically binds to the consensus sequence 5'-TAAAT-3'. Activates growth hormone and prolactin genes (PubMed:22010633, PubMed:26612202).

Pituitary hormone deficiency, combined, 1

CPHD1

Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD1 is characterized by pleiotropic deficiencies of growth hormone, prolactin and thyroid-stimulating hormone, while the production of adrenocorticotropic hormone, luteinizing hormone, and follicle-stimulating hormone are preserved. In infancy severe growth deficiency from birth as well as distinctive facial features with prominent forehead, marked midfacial hypoplasia with depressed nasal bridge, deep-set eyes, and a short nose with anteverted nostrils and hypoplastic pituitary gland by MRI examination can be seen. Some cases present with severe intellectual disability along with short stature.

None

The disease is caused by variants affecting the gene represented in this entry.

Belongs to the POU transcription factor family. Class-1 subfamily.

• Nucleus

GHF1, PIT1, POU1F1, Pituitary-specific positive transcription factor 1, PIT-1, Growth hormone factor 1, GHF-1

• entrezGene:5449
• omim:173110
• swissprot:P28069

Proteins

Immunology & Infectious Disease

32912Da