Details for Gene LAMC1

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

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