Details for Gene DYSF

GENE NAME DYSF
CHROMOSOME 2
ENSEMBL ID ENSG00000135636
ENTREZ ID 8291
UNIPROT ACCESSION NUMBER O75923
GO MOLECULAR FUNCTION protein binding; calcium-dependent phospholipid binding; lipid binding; calcium ion binding; phospholipid binding; metal ion binding
ESSENTIAL IN MOUSE Non-essential
PATHWAYS R-HSA-397014; R-HSA-445355
1 combination linked to DYSF OLI571
2 variants linked to DYSF DYSF:c.1120G>C, p.Val374Leu; DYSF:c.5946G>A, p.Ala1982=
1 disease linked to DYSF Limb-girdle muscular dystrophy

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