Immunogen sequence: VKPGKVPGVG LPGVYPGGVL PGARFPGVGV LPGVPTGAGV KPKAPGVGGA FAGIPGVGPF GGPQPGVPLG YPIKAPKLPG GYGLPYTTGK LPYGYGPGGV AGAAGKAGYP TGTGVGPQAA AAAAAKAAAK FGAGA
Highest antigen sequence identity to the following orthologs: Mouse - 85%, Rat - 83%.
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.
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Protein Aliases: Elastin; FLJ38671; FLJ43523; Tropoelastin
Gene Aliases: ELN; SVAS; WBS; WS
UniProt ID: (Human) P15502
Entrez Gene ID: (Human) 2006
Molecular Function: structural protein