GENE NAME | LMNA |
CHROMOSOME | 1 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000160789 |
UNIPROT ACCESSION NUMBER | P02545 |
GO MOLECULAR FUNCTION | ['protein binding'] |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | hsa04210; hsa05410; hsa05412; hsa05414; R-HSA-1643685; R-HSA-381038; R-HSA-381070; R-HSA-381119; R-HSA-392499; R-HSA-5663202; R-HSA-6802952; R-HSA-6802957 |
4 combinations linked to LMNA | OLI189; OLI1797; OLI190; OLI077 |
4 variants linked to LMNA | LMNA:c.892C>T, p.Arg298Cys; LMNA:c.976T>A, p.Ser326Thr; LMNA:c.1930C>T, p.Arg644Cys; LMNA:c.647G>A, p.Arg216His |
2 diseases linked to LMNA | Dilated cardiomyopathy; Emery-Dreifuss muscular dystrophy |