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 |