GENE NAME | LAMB3 |
CHROMOSOME | 1 |
ENSEMBL ID | ENSG00000196878 |
ENTREZ ID | 3914 |
UNIPROT ACCESSION NUMBER | Q13751 |
GO MOLECULAR FUNCTION | protein-containing complex binding; structural molecule activity; protein binding; extracellular matrix structural constituent |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | hsa04151; R-HSA-3000171; R-HSA-446728; hsa04510; hsa05165; R-HSA-1474290; R-HSA-3000157; hsa05222; R-HSA-2022090; hsa04512; R-HSA-162582; R-HSA-8874081; hsa05145; hsa05200; R-HSA-8875878; R-HSA-1500931; hsa05146; R-HSA-2214320; hsa05200; R-HSA-1474244; hsa05146; R-HSA-1474228; R-HSA-446107; R-HSA-6806834; R-HSA-9006934; hsa05145; hsa05222; hsa05165; hsa04510; hsa04512; hsa04151 |
2 combinations linked to LAMB3 | OLI1031; OLI126 |
2 variants linked to LAMB3 | LAMB3:c.1903C>T, p.Arg635Ter; LAMB3:c.1015T>C, p.Tyr339His |
2 diseases linked to LAMB3 | Junctional epidermolysis bullosa; Severe generalized junctional epidermolysis bullosa |