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Nitric oxide synthases (EC 1.14.13.39) (NOSs) are a family of enzymes catalyzing the production of nitric oxide (NO) from L-arginine. NO is an important cellular signaling molecule. It helps modulate vascular tone, insulin secretion, airway tone, and peristalsis, and is involved in angiogenesis and neural development.
Once inside the body the vector introduces the therapeutic gene into host cells, and the protein encoded by the newly inserted gene is then produced by the body's own cells. [11] This type of therapy can correct for the missing protein/enzyme in patients with lysosomal storage diseases. [1]
After induction, CNCCs lose their cell to cell contacts. This allows them to move through the extracellular matrix and interact with its components. The CNCCs, with the assistance of their filopodia and lamellipodia (actin containing extensions of cytoplasm that allow a cell to probe its path of migration), leave the neural tube and migrate along a dorsolateral pathway to the circumpharyngeal ...
The human SCD-1 gene structure and regulation is very similar to that of mouse SCD-1. Overexpression of SCD-1 in humans may be involved in the development of hypertriglyceridemia, atherosclerosis, and diabetes. [25] One study showed that SCD-1 activity was associated with inherited hyperlipidemia. SCD-1 deficiency has also been shown to reduce ...
It acts as an enzyme to convert plasminogen into its active form plasmin, the major enzyme responsible for clot breakdown. It is a serine protease (EC 3.4.21.68) found on endothelial cells lining the blood vessels. Human tPA is encoded by the PLAT gene, and has a molecular weight of ~70 kDa in the single-chain form. [5]
The use of hECTs in generating tissue engineered heart valves is also being explored to improve current heart valve constructs for in vivo animal studies. [20] As tissue engineering technology advances to overcome current limitations, hECTs are a promising avenue for experimental drug discovery, screening and disease modelling and in vivo repair.
59272 70008 Ensembl ENSG00000130234 ENSMUSG00000015405 UniProt Q9BYF1 Q8R0I0 RefSeq (mRNA) NM_021804 NM_001371415 NM_001130513 NM_027286 RefSeq (protein) NP_068576 NP_001358344 NP_001123985 NP_081562 Location (UCSC) Chr X: 15.56 – 15.6 Mb Chr X: 162.92 – 162.97 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Angiotensin-converting enzyme 2 (ACE2) is an enzyme that can be found ...
The AARS2 gene is located on chromosome 6 (6p21.1) and comprises 20 exons. Mutations reported include missense, nonsense, and splice-site variants, as well as deletions. Pathogenic mutations often lead to impaired enzyme function, resulting in defective mitochondrial protein synthe