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 |