GENE NAME | LAMA1 |
CHROMOSOME | 18 |
ENSEMBL ID | ENSG00000101680 |
ENTREZ ID | 284217 |
UNIPROT ACCESSION NUMBER | P25391 |
GO MOLECULAR FUNCTION | glycosphingolipid binding; extracellular matrix structural constituent; protein binding; signaling receptor binding |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | hsa04151; hsa04510; hsa05412; hsa04512; hsa05145; hsa05410; hsa05222; R-HSA-1266738; R-HSA-3000178; R-HSA-6806834; R-HSA-9006934; hsa05165; R-HSA-3000157; hsa05146; R-HSA-3000171; hsa05416; R-HSA-373760; R-HSA-9675108; R-HSA-1474244; R-HSA-422475; hsa05200; R-HSA-8875878; hsa05414; R-HSA-8874081; R-HSA-162582 |
1 combination linked to LAMA1 | OLI118 |
2 variants linked to LAMA1 | LAMA1:c.6074C>T, p.Thr2025Met; LAMA1:c.7141C>T, p.Arg2381Cys |
1 disease linked to LAMA1 | X-linked cerebellar ataxia |