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This gene encodes a protein that is one of the two components of elastic fibers. The encoded protein is rich in hydrophobic amino acids such as glycine and proline, which form mobile hydrophobic regions bounded by crosslinks between lysine residues. Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. Multiple transcript variants encoding different isoforms have been found for this gene.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Elastin microfibril interface-located protein 1; Elastin microfibril interfacer 1; EMILIN-1
基因别名: EMI; EMILIN; EMILIN1; gp115
UniProt ID: (Human) Q9Y6C2
Entrez Gene ID: (Human) 11117