Structural highlights
Disease
[PIT1_HUMAN] Hypothyroidism due to deficient transcription factors involved in pituitary development or function;Combined pituitary hormone deficiencies, genetic forms. The disease is caused by mutations affecting the gene represented in this entry.
Function
[PIT1_HUMAN] 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).[1] [2]
References
- ↑ Turton JP, Strom M, Langham S, Dattani MT, Le Tissier P. Two novel mutations in the POU1F1 gene generate null alleles through different mechanisms leading to combined pituitary hormone deficiency. Clin Endocrinol (Oxf). 2012 Mar;76(3):387-93. doi:, 10.1111/j.1365-2265.2011.04236.x. PMID:22010633 doi:http://dx.doi.org/10.1111/j.1365-2265.2011.04236.x
- ↑ Sobrier ML, Tsai YC, Perez C, Leheup B, Bouceba T, Duquesnoy P, Copin B, Sizova D, Penzo A, Stanger BZ, Cooke NE, Liebhaber SA, Amselem S. Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD. Hum Mol Genet. 2016 Feb 1;25(3):472-83. doi: 10.1093/hmg/ddv486. Epub 2015 Nov, 26. PMID:26612202 doi:http://dx.doi.org/10.1093/hmg/ddv486
