GENE NAME | SGCA |
CHROMOSOME | 17 |
ENSEMBL ID | ENSG00000108823 |
ENTREZ ID | 6442 |
UNIPROT ACCESSION NUMBER | Q16586 |
GO MOLECULAR FUNCTION | protein binding |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | hsa05412; hsa05410; hsa05416; hsa05414; hsa05410; hsa05412; hsa05414; hsa05416 |
1 combination linked to SGCA | OLI017 |
1 variant linked to SGCA | SGCA:c.850C>T, p.Arg284Cys |
1 disease linked to SGCA | Limb-girdle muscular dystrophy |