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ELN

This gene encodes a protein that is one of the two components of elastic fibers. Elastic fibers comprise part of the extracellular matrix and confer elasticity to organs and tissues including the heart, skin, lungs, ligaments, and blood vessels. 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. Degradation products of the encoded protein, known as elastin-derived peptides or elastokines, bind the elastin receptor complex and other receptors and stimulate migration and proliferation of monocytes and skin fibroblasts. Elastokines can also contribute to cancer progression. Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. [provided by RefSeq, Aug 2017]
Protein class

Disease related genes, Human disease related genes, Plasma proteins

Predicted location

Secreted

Single cell type specificity

Cell type enhanced (Peritubular cells, Fibroblasts, Leydig cells, Endometrial stromal cells)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Cell line enhanced (ASC diff, BJ, fHDF/TERT166, U-2197)

Interaction

The polymeric elastin chains are cross-linked together into an extensible 3D network. Forms a ternary complex with BGN and MFAP2. Interacts with MFAP2 via divalent cations (calcium> magnesium> manganese) in a dose-dependent and saturating manner. Interacts with FBLN5 (PubMed:15790312, PubMed:17035250). Interacts with FBN1 (PubMed:15790312). Forms a ternary complex with FBN1 and FBLN2 or FBLN5 (PubMed:17255108). Interacts with MFAP4 in a Ca (2+)-dependent manner; this interaction promotes ELN self-assembly (By similarity) (PubMed:15790312, PubMed:17035250, PubMed:17255108). Interacts with EFEMP2 with moderate affinity (PubMed:16478991).

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