Details for Gene COL6A1

GENE NAME COL6A1
CHROMOSOME 21
ENSEMBL ID None
ENTREZ ID ENSG00000142156
UNIPROT ACCESSION NUMBER P12109
GO MOLECULAR FUNCTION ['collagen binding', 'extracellular matrix structural constituent conferring tensile strength', 'platelet-derived growth factor binding']
ESSENTIAL IN MOUSE Non-essential
PATHWAYS hsa04151; hsa04510; hsa04512; hsa04974; hsa05165; hsa04151; hsa04510; hsa04512; hsa04974; hsa05165; R-HSA-1266738; R-HSA-1442490; R-HSA-1474228; R-HSA-1474244; R-HSA-1474290; R-HSA-162582; R-HSA-1650814; R-HSA-186797; R-HSA-2022090; R-HSA-216083; R-HSA-3000178; R-HSA-375165; R-HSA-419037; R-HSA-422475; R-HSA-8948216; R-HSA-9006934; R-HSA-9675108
3 combinations linked to COL6A1 OLI1048; OLI134; OLI1327
3 variants linked to COL6A1 COL6A1:c.823G>T, p.Gly275Trp; COL6A1:c.350T>C, p.Val117Ala; COL6A1:c.1712A>C,
3 diseases linked to COL6A1 Bethlem myopathy; Primary ovarian failure; NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy

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