- PROP1
Prophet of Pit1, paired-like homeodomain transcription factor, also known as PROP1, is a human
gene .cite web | title = Entrez Gene: PROP1 prophet of Pit1, paired-like homeodomain transcription factor| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5626| accessdate = ]PBB_Summary
section_title =
summary_text = PROP1 has both DNA-binding and transcriptional activation ability. Its expression leads to ontogenesis of pituitary gonadotropes, as well as somatotropes, lactotropes, and caudomedial thyrotropes. Inactivating mutations in PROP1 result in deficiencies of luteinizing hormone (LH; MIM 152780), follicle-stimulating hormone (FSH; MIM 136530), growth hormone (GH; MIM 139250), prolactin (PRL; MIM 176760), and thyroid-stimulating hormone (TSH; MIM 188540). See combined pituitary hormone deficiency (CPHD; MIM 262600). [supplied by OMIM] cite web | title = Entrez Gene: PROP1 prophet of Pit1, paired-like homeodomain transcription factor| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5626| accessdate = ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Osorio MG, Kopp P, Marui S, "et al." |title=Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1. |journal=J. Clin. Endocrinol. Metab. |volume=85 |issue= 8 |pages= 2779–85 |year= 2000 |pmid= 10946881 |doi=
*cite journal | author=Dasen JS, Rosenfeld MG |title=Signaling and transcriptional mechanisms in pituitary development. |journal=Annu. Rev. Neurosci. |volume=24 |issue= |pages= 327–55 |year= 2001 |pmid= 11283314 |doi= 10.1146/annurev.neuro.24.1.327
*cite journal | author=Mody S, Brown MR, Parks JS |title=The spectrum of hypopituitarism caused by PROP1 mutations. |journal=Best Pract. Res. Clin. Endocrinol. Metab. |volume=16 |issue= 3 |pages= 421–31 |year= 2003 |pmid= 12464226 |doi=
*cite journal | author=Rodriguez R, Andersen B |title=Cellular determination in the anterior pituitary gland: PIT-1 and PROP-1 mutations as causes of human combined pituitary hormone deficiency. |journal=Minerva Endocrinol. |volume=28 |issue= 2 |pages= 123–33 |year= 2003 |pmid= 12717343 |doi=
*cite journal | author=Wu W, Cogan JD, Pfäffle RW, "et al." |title=Mutations in PROP1 cause familial combined pituitary hormone deficiency. |journal=Nat. Genet. |volume=18 |issue= 2 |pages= 147–9 |year= 1998 |pmid= 9462743 |doi= 10.1038/ng0298-147
*cite journal | author=Fofanova O, Takamura N, Kinoshita E, "et al." |title=Compound heterozygous deletion of the PROP-1 gene in children with combined pituitary hormone deficiency. |journal=J. Clin. Endocrinol. Metab. |volume=83 |issue= 7 |pages= 2601–4 |year= 1998 |pmid= 9661653 |doi=
*cite journal | author=Amendt BA, Sutherland LB, Semina EV, Russo AF |title=The molecular basis of Rieger syndrome. Analysis of Pitx2 homeodomain protein activities. |journal=J. Biol. Chem. |volume=273 |issue= 32 |pages= 20066–72 |year= 1998 |pmid= 9685346 |doi=
*cite journal | author=Cogan JD, Wu W, Phillips JA, "et al." |title=The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency. |journal=J. Clin. Endocrinol. Metab. |volume=83 |issue= 9 |pages= 3346–9 |year= 1998 |pmid= 9745452 |doi=
*cite journal | author=Flück C, Deladoey J, Rutishauser K, "et al." |title=Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg-->Cys at codon 120 (R120C). |journal=J. Clin. Endocrinol. Metab. |volume=83 |issue= 10 |pages= 3727–34 |year= 1998 |pmid= 9768691 |doi=
*cite journal | author=Duquesnoy P, Roy A, Dastot F, "et al." |title=Human Prop-1: cloning, mapping, genomic structure. Mutations in familial combined pituitary hormone deficiency. |journal=FEBS Lett. |volume=437 |issue= 3 |pages= 216–20 |year= 1998 |pmid= 9824293 |doi=
*cite journal | author=Rosenbloom AL, Almonte AS, Brown MR, "et al." |title=Clinical and biochemical phenotype of familial anterior hypopituitarism from mutation of the PROP1 gene. |journal=J. Clin. Endocrinol. Metab. |volume=84 |issue= 1 |pages= 50–7 |year= 1999 |pmid= 9920061 |doi=
*cite journal | author=Mendonca BB, Osorio MG, Latronico AC, "et al." |title=Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene. |journal=J. Clin. Endocrinol. Metab. |volume=84 |issue= 3 |pages= 942–5 |year= 1999 |pmid= 10084575 |doi=
*cite journal | author=Nakamura Y, Usui T, Mizuta H, "et al." |title=Characterization of Prophet of Pit-1 gene expression in normal pituitary and pituitary adenomas in humans. |journal=J. Clin. Endocrinol. Metab. |volume=84 |issue= 4 |pages= 1414–9 |year= 1999 |pmid= 10199788 |doi=
*cite journal | author=Deladoëy J, Flück C, Büyükgebiz A, "et al." |title="Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency. |journal=J. Clin. Endocrinol. Metab. |volume=84 |issue= 5 |pages= 1645–50 |year= 1999 |pmid= 10323394 |doi=
*cite journal | author=Agarwal G, Bhatia V, Cook S, Thomas PQ |title=Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion. |journal=J. Clin. Endocrinol. Metab. |volume=85 |issue= 12 |pages= 4556–61 |year= 2001 |pmid= 11134108 |doi=
*cite journal | author=Vallette-Kasic S, Barlier A, Teinturier C, "et al." |title=PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency. |journal=J. Clin. Endocrinol. Metab. |volume=86 |issue= 9 |pages= 4529–35 |year= 2001 |pmid= 11549703 |doi=
*cite journal | author=Teinturier C, Vallette S, Adamsbaum C, "et al." |title=Pseudotumor of the pituitary due to PROP-1 deletion. |journal=J. Pediatr. Endocrinol. Metab. |volume=15 |issue= 1 |pages= 95–101 |year= 2002 |pmid= 11822586 |doi=
*cite journal | author=Crone J, Pfäffle R, Stobbe H, "et al." |title=Familial combined pituitary hormone deficiency caused by PROP-1 gene mutation. Growth patterns and MRI studies in untreated subjects. |journal=Horm. Res. |volume=57 |issue= 3-4 |pages= 120–6 |year= 2002 |pmid= 12006708 |doi=External links
*
PBB_Controls
update_page = yes
require_manual_inspection = no
update_protein_box = yes
update_summary = yes
update_citations = yes
Wikimedia Foundation. 2010.