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People also ask
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What is the mutation in PITX1?
mutations in PITX1 can cause a broad spectrum of isolated lower-limb malformations including clubfoot, deficiency of long bones, and mirror-image polydactyly. These studies identify PITX1 as a new ERalpha transcriptional target. -
What is the full form of POU1F1 gene?
POU1F1 - Pituitary-specific positive transcription factor 1 - Homo sapiens (Human) | UniProtKB | UniProt. -
What is the function of the pit1?
Pit-1 activates transcription of the and prolactin genes and is necessary for the control of the beta-TSH gene transcription. The various mutations have different effects on the DNA binding and transactivating properties of Pit-1. -
What is the PROP1 gene mutation?
Mutations in the PROP1 gene are responsible for a high proportion of cases of multiple or combined anterior pituitary hormone deficiencies in humans. Combined pituitary hormone deficiency caused by a sequence deletion mutation in PROP1. -
What does Pitx2 do?
Pitx2 regulates developmental gut rotation via Daam2 activation and asymmetric Wnt signaling. Pitx2 influences the expression of transcription factors and signaling molecules involved in the differentiation of the cushion mesenchyme during heart development. -
Where is the PROP1 gene transcribed?
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. -
Where is the PROP1 gene transcribed?
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. -
What does the PITX1 gene do?
The PITX1 gene provides instructions for making a protein that plays a critical role in development of the lower limbs. The PITX1 protein is found primarily in the developing legs and feet. -
What is prop paired like Homeobox 1 PROP1?
PROP1 (PROP Paired-Like Homeobox 1) is a Protein Coding gene. Diseases associated with PROP1 include Pituitary Hormone Deficiency, Combined, 2 and Combined Pituitary Hormone Deficiencies, Genetic Forms.
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