| GENE NAME | COL27A1 |
| CHROMOSOME | 9 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000196739 |
| UNIPROT ACCESSION NUMBER | Q8IZC6 |
| GO MOLECULAR FUNCTION | ['extracellular matrix structural constituent conferring tensile strength', 'metal ion binding', 'extracellular matrix structural constituent'] |
| ESSENTIAL IN MOUSE | None |
| PATHWAYS | hsa04974; R-HSA-1474244; R-HSA-1474290; R-HSA-162582; R-HSA-1650814; R-HSA-2022090; R-HSA-6806834; R-HSA-8874081; R-HSA-8875878; R-HSA-8948216; R-HSA-9006934 |
| 1 combination linked to COL27A1 | OLI1747 |
| 1 variant linked to COL27A1 | COL27A1:c.3715C>T, p.Arg1239Trp |
| 1 disease linked to COL27A1 | 46,XY disorder of sex development |