Details for Gene LAMB3

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

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