ELN(redirected from OTTHUMP00000211863)
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ELNA gene on chromosome 7q11.23 that encodes elastin, one of the two proteins in elastic fibres. Elastin is rich in hydrophobic amino acids—e.g., glycine and proline—which form mobile hydrophobic regions bounded by crosslinks between lysine residues.
ELN deletions and mutations are linked to supravalvular aortic stenosis and autosomal dominant cutis laxa.