Details for Gene LAMA3

GENE NAME LAMA3
CHROMOSOME 18
ENSEMBL ID None
ENTREZ ID ENSG00000053747
UNIPROT ACCESSION NUMBER Q16787
GO MOLECULAR FUNCTION ['structural molecule activity', 'integrin binding', 'extracellular matrix structural constituent']
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa04151; hsa04510; hsa04512; hsa05145; hsa05146; hsa05165; hsa05200; hsa05222; R-HSA-1474228; R-HSA-1474244; R-HSA-1474290; R-HSA-1500931; R-HSA-162582; R-HSA-2022090; R-HSA-2214320; R-HSA-3000157; R-HSA-3000171; R-HSA-3000178; R-HSA-446107; R-HSA-446728; R-HSA-6806834; R-HSA-8874081; R-HSA-8875878; R-HSA-9006934
6 combinations linked to LAMA3 OLI1733; OLI1641; OLI1031; OLI577; OLI521; OLI576
6 variants linked to LAMA3 LAMA3:c.1559G>A, p.Cys520Tyr; LAMA3:c.1097G>A, p.Arg366His; LAMA3:c.2798G>T, p.Gly933Val; LAMA3:c.9400G>C, p.Asp3134His; LAMA3:c.3712dup, p.Tyr1238LeufsTer3; LAMA3:c.1650_1659del, p.Ile550MetfsTer46
3 diseases linked to LAMA3 Hypodontia; Severe generalized junctional epidermolysis bullosa; Amelogenesis imperfecta
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