What protein does GATA4 produce?
Data show that the combination of GATA binding protein 4 (Gata4), T-box transcription factor 5 (Tbx5) and BRG1-associated factor 60C protein (Baf60c) is sufficient for inducing adipose tissue-derived mesenchymal stem cells (ADMSCs) to form cardiomyocytes.
Is GATA4 a gene?
GATA4 (GATA Binding Protein 4) is a Protein Coding gene. Diseases associated with GATA4 include Testicular Anomalies With Or Without Congenital Heart Disease and Atrial Septal Defect 2.
What does GATA 4 do?
GATA4 is expressed in both embryo and adult cardiomyocytes where it functions as a transcriptional regulator for many cardiac genes, and also regulates hypertrophic growth of the heart. GATA4 promotes cardiac morphogenesis, cardiomyocytes survival, and maintains cardiac function in the adult heart.
What protein does TBX5 encode?
T-box 5
The TBX5 gene provides instructions for making a protein called T-box 5 that plays an important role in the formation of tissues and organs during embryonic development. This protein regulates the activity of other genes by attaching (binding) to specific regions of DNA.
Which chromosome is GATA4 found on?
chromosome 8p23.1
The human GATA4 gene on chromosome 8p23. 1 encodes an essential transcription factor for the developing gonad (8) and heart (9, 10).
What chromosome is GATA4 on?
The mouse Gata4 gene was mapped to chromosome 14, closely linked to Clu (clusterin), using genomic DNAs from a (C57BL/6J x Mus spretus)F1 x M.
What is gata 2 mutation?
GATA2 deficiency is caused by germline mutations in the GATA2 gene. Germline means that the mutation is present in every cell in the body, not just the immune system cells. The GATA2 gene produces a protein called a transcription factor. Transcription factors regulate when other genes are turned on.
What is nfat2?
The Nuclear Factor of Activated T Cells (Nfat) Transcription Factor Nfatp (Nfatc2) Is a Repressor of Chondrogenesis – PMC. An official website of the United States government.
Is TBX5 a Hox gene?
Here, we identify the minimal regulatory element sufficient for the earliest forelimb-restricted expression of the mouse Tbx5 gene and show that this sequence is Hox responsive.
Is TBX5 a transcription factor?
TBX5 has been established as a master transcription factor for cardiac development. It has also been shown that TBX5, as well as TBX4 are essential for limb development. TBX5 mutations and SNPs may cause the cardiac and limb diseases and/or disease risk for corresponding defects under a variety of biological bases.
What does GATA2 stand for?
GATA2 or GATA-binding factor 2 is a transcription factor, i.e. a nuclear protein which regulates the expression of genes. It regulates many genes that are critical for the embryonic development, self-renewal, maintenance, and functionality of blood-forming, lympathic system-forming, and other tissue-forming stem cells.
Can GATA2 deficiency be cured?
A bone marrow transplant, also called a hematopoietic stem cell transplant, is the best long-term treatment option for many serious genetic immunodeficiency diseases. This therapy has been used to manage patients with GATA2 deficiency, and it can resolve most of their clinical symptoms and laboratory abnormalities.
Why is Tbx5 restricted to the forelimb?
Direct evidence for a role of Tbx5 in forelimb development has been provided by the discovery that mutations in human TBX5 cause Holt-Oram Syndrome (HOS, OMIM 142900), a dominant disorder characterised predominantly by upper(fore) limb defects and heart abnormalities (Basson et al.,1997; Li et al.,1997).
What is Holt-Oram Syndrome?
Holt-Oram syndrome is characterized by skeletal abnormalities of the hands and arms (upper limbs) and heart problems. People with Holt-Oram syndrome have abnormally developed bones in their upper limbs. At least one abnormality in the bones of the wrist (carpal bones) is present in affected individuals.
Is Tbx5 a Hox gene?
What is Holt Oram?
Holt-Oram syndrome is an autosomal dominant genetic condition that is associated with a change (mutation) in the TBX5 gene. While this mutation can be inherited, most cases result from a new mutation in patients without a family history of the disorder.
What does the NOTCH1 protein do?
Notch1 signaling helps determine the specialization of cells into certain cell types that perform particular functions in the body (cell fate determination). It also plays a role in cell growth and division (proliferation), maturation (differentiation), and self-destruction (apoptosis).