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Gene encoding elastin.
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The ELN encodes elastin, a component of collagen tissue of the eye that is also present in the iris stoma [ 23].
The underlying defect is a mutation in the gene encoding for elastin (ELN) [ 33].
Deletion of the long arm of chromosome 7 (7q11.23), which encodes for the elastin gene, results in decreased elastin production, affecting the heart, face, and bones.
MFAP2, the gene encoding for MAGP1, a component of the elastin associated microfibrils, was downregulated in AA astrocytes (Figure 5A).
MFAP2, the gene encoding for MAGP1, a component of the elastin associated microfibrils, and the gene encoding for LOXL2, a lysyl oxidase that participates in maturation of elastic fiber, were downregulated in AA astrocytes.
Genes encoding components of ECM including numerous collagens, versican, elastin, fibulin, fibronectin 1, microfibrillar associated glycoproteins, thrombospondins, myocilin, tenascins, and lumican were down-regulated in mammary gland of IMF4 cows.
Genes with stress-related functions, and functions in cellular repair, were also commonly associated with transcriptional stress responses in P. moluccensis, and included dnajb11, peroxiredoxin 6, ptges3, apoea, hif1an, and a gene encoding elastase 2. Elastase 2 hydrolyses collagen-IV and elastin and its activity has been shown to increase in the presence of reactive oxygen species [ 33].
However, because all mutations occur in genes encoding for structural components of tendons and blood vessel walls (e.g., collagen, elastin, fibrillin) that contribute to biomechanical integrity of these tissues, the diseases share certain similarities in their presentation.
It is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyzes the first step in the formation of cross-links in collagens and elastin, a key component in the core regulatory pathway of fibrogenesis.
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