What does the NKX2 5 gene do?
NKX2-5 belongs to the NK2 family of homeobox genes and is a homolog of the tinman gene found in Drosophila melanogaster. It functions as a key regulator in cardiac morphogenesis, regulating the transcription of various genes involved in the process.
What does NKX2 5 stand for?
Homeobox protein Nkx-2.5
|Available structures PDB Ortholog search: PDBe RCSB showList of PDB id codes|
|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|
Where is NKX2 5 expressed?
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?
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.
Are VSDS genetic?
Risk factors Ventricular septal defects may run in families and sometimes may occur with other genetic problems, such as Down syndrome. If you already have a child with a heart defect, a genetic counselor can discuss the risk of your next child having one.
Is there a cure for Holt-Oram syndrome?
The primary treatment for structural abnormalities of the heart associated with Holt-Oram syndrome is closure of the defect(s) with surgery or catheters. In such cases, the surgical procedures performed will depend upon the location and severity of the abnormalities and their associated symptoms.
How many people in the world have Holt-Oram syndrome?
Holt-Oram syndrome is estimated to affect 1 in 100,000 individuals.
Is everyone born with a hole in their heart?
Everyone is born with a natural hole between the collecting chambers of the heart. This hole (opening) is known as the foramen ovale. It is very important while the baby (fetus) is in the womb (uterus) as it directs oxygen-rich blood from the mother’s placenta towards the baby’s brain and heart.
What are the diseases associated with the Nkx2-5 gene?
GeneCards Summary for NKX2-5 Gene NKX2-5 (NK2 Homeobox 5) is a Protein Coding gene. Diseases associated with NKX2-5 include Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects and Ventricular Septal Defect 3.
What is the signature phenotype of NKX2-5?
NKX2-5 mutations mainly occur in familial congenital heart defects, the signature phenotype is atrial septal defects with conduction disturbances and mutation carriers are at increased risk of sudden cardiac death. 187QNRRYKCKRQR197 was required for exclusive nuclear localization of NKX2.5.
What is the function of the protein Nkx2.5?
Homeobox protein Nkx-2.5 is a protein that in humans is encoded by the NKX2.5 gene. Homeobox -containing genes play critical roles in regulating tissue-specific gene expression essential for tissue differentiation, as well as determining the temporal and spatial patterns of development (Shiojima et al., 1995).
Where is NKX2-5 expressed in the heart?
NKX2-5 is expressed in early cardiac progenitor cells during embryogenesis and continues to be expressed in the heart throughout adulthood. Costa, MW, et al. Functional characterization of a novel mutation in NKX2-5 associated with congenital heart disease and adult-onset cardiomyopathy.