Details for Gene DES

GENE NAME DES
CHROMOSOME 2
ENSEMBL ID ENSG00000175084
ENTREZ ID 1674
UNIPROT ACCESSION NUMBER P17661
GO MOLECULAR FUNCTION structural constituent of cytoskeleton; protein binding; identical protein binding
ESSENTIAL IN MOUSE Non-essential
PATHWAYS R-HSA-390522; hsa05414; hsa05412; hsa05410; R-HSA-397014
3 combinations linked to DES OLI499; OLI415; OLI190
3 variants linked to DES DES:c.1503G>A, p.Val469Met; DES:c.656C>T, p.Thr219Ile; DES:c.638C>T, p.Ala213Val
4 diseases linked to DES Congenital diaphragmatic hernia; Emery-Dreifuss muscular dystrophy; Marfan syndrome; Limb-girdle muscular dystrophy

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