What is NKX2 5 mutation?
In humans, NKX2-5 is one of the most commonly mutated single genes in congenital heart disease (CHD), with dominant alleles causing atrial septal defect and atrioventricular conduction block most commonly, and a host of more severe defects at lower penetrance (Elliott et al., 2010).
How does NKX2 5 work?
NKX2-5 is genetically associated with scleroderma, pulmonary hypertension, and fibrosis. Functional evidence revealed a regulatory mechanism that results in NKX2-5 transcriptional activation in pulmonary artery smooth muscle cells through the interaction of an upstream promoter and a novel downstream enhancer.
What does NKX2 5 stand for?
Homeobox protein Nkx-2.5
| NKX2-5 | |
|---|---|
| Available structures PDB Ortholog search: PDBe RCSB showList of PDB id codes | |
| Identifiers | |
| Aliases | NKX2-5, CHNG5, CSX, CSX1, HLHS2, NKX2.5, NKX2E, NKX4-1, VSD3, NK2 homeobox 5 |
| External IDs | OMIM: 600584 MGI: 97350 HomoloGene: 3230 GeneCards: NKX2-5 |
Can a disease result from a mutation in a transcription factor?
Mutations in numerous transcription factors have been identified in patients and families with some of the most common forms of cardiac malformations and arrhythmias.
Where is Nkx2-5 expressed in the heart?
Nkx2-5 is expressed in early cardiac progenitor cells before cardiogenic differentiation and through adulthood (see ref. 5 for review) and demarcates the heart field (6). Nkx2-5 also is expressed to pharyngeal endoderm, spleen, distal stomach, and tongue muscle (1).
What protein does Tbx5 encode?
T-box 5
Function. Tbx5 is involved with the development of the four chambers in the heart, the electrical conducting system, and the septum separating the right and left sides of the heart. The Tbx5 gene is a transcription factor that codes for the protein called T-box 5.
What does GATA4 stand for?
GATA binding protein 4
| GATA4 | |
|---|---|
| Aliases | GATA4, GATA binding protein 4, ASD2, TACHD, VSD1, TOF |
| External IDs | OMIM: 600576 MGI: 95664 HomoloGene: 1551 GeneCards: GATA4 |
| showGene location (Human) | |
| showGene location (Mouse) |
What is a stop mutation?
A nonsense mutation, or its synonym, a stop mutation, is a change in DNA that causes a protein to terminate or end its translation earlier than expected.
Is Tbx5 a Hox gene?
Tbx4 and Tbx5 are two closely related T-box genes that encode transcription factors expressed in the prospective hindlimb and forelimb territories, respectively, of all jawed vertebrates. Our results support a mechanism in which Hox genes act upstream of Tbx5 to control the axial position of forelimb formation.
What is gata 2 mutation?
GATA2 deficiency is a rare disorder of the immune system with wide-ranging effects. First identified in 2011, the disorder is char- acterized by immunodeficiency, myelodys- plastic syndrome (a condition characterized by ineffective blood cell production), lung dis- ease, and problems of the vascular/lymphatic system.
What is the difference between binding sites and active sites?
This specific region also has a binding site along with a catalytic site. Therefore, binding sites aid only in the binding of a ligand to a large molecule whereas active sites aid both the binding of a ligand to a large molecule while letting it undergo a catalyzed chemical reaction.
What is the function of NKX2 5?
NKX2.5 in vertebrates is equivalent to the ‘tinman’ gene in Drosophila and directly activates the MEF2 gene to control cardiomyocyte differentiation. NKX2.5 operates in a positive feedback loop with GATA transcription factors to regulate cardiomyocyte formation.
What is the binding site of a protein?
Binding site is a region on a protein, DNA or RNA to which ligands can bind. There, the ligand can form a chemical bond with this site. These regions show specificity; a particular ligand will bind to a particular binding site. Therefore, this site is a measure of the types of ligands that can bind with a molecule.
What is the active site of an enzyme?
The active site is a region on an enzyme to which the substrates of a chemical reaction bind in order to undergo a catalyzed chemical reaction. this region is consist of two sub-regions as a binding site and catalytic site. The binding site contains some residues that can help the binding of the substrate (reactants) on to the enzyme.