GENE NAME | MMP1 |
CHROMOSOME | 11 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000196611 |
UNIPROT ACCESSION NUMBER | P03956 |
GO MOLECULAR FUNCTION | ['endopeptidase activity', 'zinc ion binding', 'serine-type endopeptidase activity', 'metalloendopeptidase activity', 'peptidase activity'] |
ESSENTIAL IN MOUSE | None |
PATHWAYS | hsa03320; hsa04657; hsa04926; hsa05171; hsa05200; hsa05219; hsa05323; R-HSA-109582; R-HSA-1280215; R-HSA-1442490; R-HSA-1474228; R-HSA-1474244; R-HSA-1592389; R-HSA-168256; R-HSA-202733; R-HSA-210991; R-HSA-381426; R-HSA-392499; R-HSA-449147; R-HSA-6785807 |
1 combination linked to MMP1 | OLI1673 |
1 variant linked to MMP1 | MMP1:c.1301G>T, p.Gly434Val |
1 disease linked to MMP1 | Non-Syndromic genetic keratoconus |