Details for Gene LAMA5

GENE NAME LAMA5
CHROMOSOME 20
ENSEMBL ID ENSG00000130702
ENTREZ ID 3911
UNIPROT ACCESSION NUMBER O15230
GO MOLECULAR FUNCTION extracellular matrix structural constituent; integrin binding
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-6806834; R-HSA-9006934; R-HSA-1280215; hsa05145; R-HSA-1474244; hsa05146; R-HSA-1474228; R-HSA-3000171; hsa05200; R-HSA-449147; R-HSA-8875878; hsa04151; hsa04510; R-HSA-6785807; R-HSA-162582; R-HSA-168256; R-HSA-8874081; hsa05222; R-HSA-3000178; hsa05165; R-HSA-3000157; hsa04512
2 combinations linked to LAMA5 OLI916; OLI504
1 variant linked to LAMA5 LAMA5:c.3728C>T, p.Pro1243Leu
1 disease linked to LAMA5 Benign familial hematuria

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