GenAge entry for ELN (Homo sapiens)
Gene name (HAGRID: 230)
- HGNC symbol
- ELN
- Aliases
- WBS; WS; SVAS
- Common name
- elastin
Potential relevance to the human ageing process
- Main reason for selection
- Entry selected based on evidence linking the gene or its product to human longevity and/or multiple age-related phenotypes
- Description
ELN is structural protein that may be related to arterial morphogenesis. Mice without ELN die of obstructive arterial disease [1651]. In humans, mutations in ELN have been associated with vascular disease [1655]. Large deletions resulting in hemizygosity of the elastin gene cause Williams-Beuren syndrome [1665], which has been suggested to resemble accelerated ageing [1422]. ELN also plays a role in skin ageing [3333]. Therefore, ELN has been associated with various ageing changes.
Cytogenetic information
- Cytogenetic band
- 7q11.23
- Location
- 74,027,789 bp to 74,069,906 bp
- Orientation
- Plus strand
Protein information
- Gene Ontology
-
Process: GO:0007585; respiratory gaseous exchange
GO:0008015; blood circulation
GO:0008283; cell proliferation
GO:0009887; animal organ morphogenesis
GO:0022617; extracellular matrix disassembly
GO:0030198; extracellular matrix organization
Cellular component: GO:0005576; extracellular region
GO:0005578; proteinaceous extracellular matrix
GO:0071953; elastic fiber
Show all GO termsFunction: GO:0005201; extracellular matrix structural constituent
GO:0005515; protein binding
