Details for Gene AGRN

GENE NAME AGRN
CHROMOSOME 1
ENSEMBL ID None
ENTREZ ID ENSG00000188157
UNIPROT ACCESSION NUMBER O00468
GO MOLECULAR FUNCTION ['structural constituent of cytoskeleton', 'dystroglycan binding', 'extracellular matrix structural constituent', 'calcium ion binding', 'protein binding', 'sialic acid binding', 'heparan sulfate proteoglycan binding', 'laminin binding', 'chondroitin sulfate binding']
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa04512; R-HSA-1266738; R-HSA-1430728; R-HSA-1474244; R-HSA-162582; R-HSA-1630316; R-HSA-1638091; R-HSA-1643685; R-HSA-1793185; R-HSA-196854; R-HSA-1971475; R-HSA-2022928; R-HSA-2024096; R-HSA-216083; R-HSA-2187338; R-HSA-3000171; R-HSA-3000178; R-HSA-3560782; R-HSA-3560783; R-HSA-3560801; R-HSA-3656237; R-HSA-3656253; R-HSA-372790; R-HSA-375165; R-HSA-3781865; R-HSA-388396; R-HSA-418594; R-HSA-419037; R-HSA-422475; R-HSA-4420332; R-HSA-5668914; R-HSA-6806667; R-HSA-71387; R-HSA-9675108; R-HSA-975634
2 combinations linked to AGRN OLI1308; OLI1063
2 variants linked to AGRN AGRN:c.2860G>A, p.Ala954Thr; AGRN:c.874T>C, p.Tyr292His
2 diseases linked to AGRN Primary ovarian failure; Catecholaminergic polymorphic ventricular tachycardia
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