Details for Gene LAMA1

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

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