What gene is ACTA2?
The ACTA2 gene provides instructions for making a protein called smooth muscle alpha (α)-2 actin, which is part of the actin protein family. Actin proteins are important for cell movement and the tensing (contraction) of muscles. Smooth muscle α-2 actin is found in smooth muscle cells.
What is ACTA2 mutation?
ACTA2 (actin, α-2, smooth muscle, aorta; OMIM *102620) is the most frequently mutated gene causing familial thoracic aortic aneurysms and dissection and is responsible for 12% to 21% of familial thoracic aortic aneurysms and dissection cases.
What chromosome is the human actin in the cardiac muscle found?
We show here that the gene coding for the cardiac muscle actin, which is closely related to the skeletal muscle actin (1.1% amino acid replacements), is located on mouse chromosome 17.
What does ACTA2 stand for?
ACTA2 (Actin Alpha 2, Smooth Muscle) is a Protein Coding gene. Diseases associated with ACTA2 include Multisystemic Smooth Muscle Dysfunction Syndrome and Aortic Aneurysm, Familial Thoracic 6.
Where is the FBN1 gene located?
Fibrillin-1 is a protein that in humans is encoded by the FBN1 gene, located on chromosome 15.
What causes multisystemic smooth muscle dysfunction?
MSMDS is a rare genetic disease mainly caused by the mutation of the ACTA2 gene p. R179H. Early genetic diagnosis should be performed for children presenting with congenital fixed dilated pupils and patent ductus arteriosus.
What is the gene code for actin?
The ACTB gene provides instructions for making a protein called beta (β)-actin, which is part of the actin protein family. Proteins in this family are organized into a network of fibers called the actin cytoskeleton, which makes up the structural framework inside cells.
Is there actin in the heart?
Abstract. The cytoskeleton of cardiac myocytes consists of actin, the intermediate filament desmin and of α- and β-tubulin that form the microtubules by polymerization.
What does SMA stain for?
SMA (Alpha Smooth Muscle Actin) is recommended for the detection of specific antigens of interest in normal and neoplastic tissues, as an adjunct to conventional histopathology using non-immunologic histochemical stains. $ 455.95.
What gene is FBN1?
FBN1 is the causative gene for Marfan syndrome, an inherited disorder of connective tissue whose major features include tall stature and arachnodactyly, ectopia lentis, and thoracic aortic aneurysm and dissection.
What does FBN1 code for?
The FBN1 gene provides instructions for making a large protein called fibrillin-1. This protein is transported out of cells into the extracellular matrix, which is an intricate lattice of proteins and other molecules that forms in the spaces between cells.
Which conditions is a result of a dysfunction of smooth muscles?
Core tip: Multisystem smooth muscle dysfunction syndrome (MSMDS) is a genetic disease that is clinically characterized by dysfunction of the smooth muscle throughout the whole body, leading to congenital fixed dilated pupils, patent ductus arteriosus, aortic and cerebrovascular disease, hypotonic bladder, intestinal …
What does ACTA2 mean?
ACTA2 (Actin Alpha 2, Smooth Muscle) is a Protein Coding gene. Diseases associated with ACTA2 include Multisystemic Smooth Muscle Dysfunction Syndrome and Aortic Aneurysm, Familial Thoracic 6. Among its related pathways are Cytoskeleton remodeling_RalA regulation pathway and GPCR Pathway.
What are the suggested intracellular proteins for the ACTA2 gene?
Plasma proteins Predicted intracellular proteins Protein Domains for ACTA2 Gene InterPro: Actin Actin/actin-like_CS Actin_CS ATPase_NBD Suggested Antigen Peptide Sequences for ACTA2 Gene GenScript: Design optimal peptide antigens: Cell growth-inhibiting gene 46 protein (ACTA_HUMAN)
What are the best antigen peptide sequences for ACTA2 gene genscript?
Suggested Antigen Peptide Sequences for ACTA2 Gene GenScript: Design optimal peptide antigens: Cell growth-inhibiting gene 46 protein (ACTA_HUMAN) cDNA FLJ52761, highly similar to Actin, aortic smooth muscle (B4DUI8_HUMAN) Actin, alpha 2, smooth muscle, aorta, isoform CRA_a (D2JYH4_HUMAN) ACTA2 protein (Q13707_HUMAN)
What is the hipedfor ACTA2 gene?
Protein differential expression in normal tissues from HIPEDfor ACTA2 Gene This gene is overexpressed in Heart (9.9) and Monocytes (9.7). Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPEDfor ACTA2 Gene