ELA2
ELA2: The gene encoding the enzyme elastase 2 (neutrophilic elastase). Mutations in ELA2 cause cyclic neutropenia.
See: Elastase 2.
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- Elastase
Elastase: An enzyme that digests and degrades a number of proteins including elastin, an elastic substance in the lungs and some other organs that supports their structural framework. Elastase is specifically inhibited by alpha-1 antitrypsin. See also: Alpha-1 antitrypsin deficiency.
- Elastase 1
Elastase 1: Pancreatic elastase, a member of the pancreatic family of serine proteases. Although termed elastase, this powerful protease can hydrolyze numerous proteins, including elastin. The gene ELA1 that encodes elastase 1 is on chromosome 12q13.
- Elastase 2
Elastase 2: Neutrophil elastase, an enzyme in neutrophils that digests elastin. The gene ELA2 encoding elastase 2 is on chromosome 19p13,3. Mutations in ELA2 cause cyclic neutropenia, a blood disease in which there are regular cyclic fluctuations in the numbers of neutrophils and other blood cells. The cycles are classically 21 days but may range […]
- Elastic fiber
Elastic fiber: A slender fiber in connective tissue that is rich in the protein elastin and has an elastic quality.
- Elastin
Elastin: A protein that coil and recoils like a spring within the elastic fibers of connective tissue and accounts for the elasticity of structures such the skin, blood vessels, heart, lungs, intestines, tendons, and ligaments. Elastin functions in connective tissue together with collagen. Whereas elastin provides elasticity, collagen provides rigidity to connective tissue. Elastin is […]