GENE NAME | LAMC1 |
CHROMOSOME | 1 |
ENSEMBL ID | ENSG00000135862 |
ENTREZ ID | 3915 |
UNIPROT ACCESSION NUMBER | P11047 |
GO MOLECULAR FUNCTION | extracellular matrix constituent conferring elasticity; extracellular matrix structural constituent |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | R-HSA-9675108; R-HSA-422475; hsa05222; hsa05165; R-HSA-3000157; hsa04512; R-HSA-162582; R-HSA-8874081; hsa05200; hsa05200; R-HSA-597592; R-HSA-8875878; R-HSA-373760; hsa05145; R-HSA-1474244; R-HSA-9619665; hsa05146; R-HSA-1474228; hsa05020; hsa05020; R-HSA-6806834; R-HSA-9006934; hsa05146; R-HSA-8957275; hsa05145; hsa04510; hsa04151; hsa04151; R-HSA-381426; R-HSA-392499; hsa04510; hsa04512; hsa05165; R-HSA-3000171; hsa05222; R-HSA-1266738; R-HSA-3000178 |
2 combinations linked to LAMC1 | OLI1142; OLI728 |
2 variants linked to LAMC1 | LAMC1:c.2871G>T, p.Gln957His; LAMC1:c.713C>T, p.Pro238Leu |
2 diseases linked to LAMC1 | Isolated anencephaly; Mayer-Rokitansky-Küster-Hauser syndrome |