Variants
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ELN Gene

elastin

ALIAS SYMBOLS

  • WBS

  • WS

  • SVAS

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Description

The ELN gene provides instructions for making a protein called tropoelastin. Multiple copies of the tropoelastin protein attach to one another and are processed to form a mature protein called elastin. Elastin is the major component of elastic fibers, which are slender bundles of proteins that provide strength and flexibility to connective tissue (tissue that supports the body's joints and organs). Elastic fibers are found in the intricate lattice that forms in the spaces between cells (the extracellular matrix), where they give structural support to organs and tissues such as the heart, skin, lungs, ligaments, and blood vessels.

CHROMOSOME

7


LOCATION

q11.23


LOCUS TYPE

gene with protein product

VARIANTS

443

SEE THE VARIANTS →

Phenotypes

External Links

  • HGNC

    HGNC:3327

  • NCBI

    2006

  • OMIM

    130160

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