| GENE NAME | OFD1 |
| CHROMOSOME | X |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000046651 |
| UNIPROT ACCESSION NUMBER | O75665 |
| GO MOLECULAR FUNCTION | ['alpha-tubulin binding', 'identical protein binding', 'protein binding', 'gamma-tubulin binding'] |
| ESSENTIAL IN MOUSE | Non-essential |
| PATHWAYS | R-HSA-162582; R-HSA-1640170; R-HSA-1852241; R-HSA-2565942; R-HSA-380259; R-HSA-380270; R-HSA-380284; R-HSA-380287; R-HSA-380320; R-HSA-453274; R-HSA-5358351; R-HSA-5610787; R-HSA-5617833; R-HSA-5620912; R-HSA-68877; R-HSA-68886; R-HSA-69275; R-HSA-69278; R-HSA-8854518 |
| 2 combinations linked to OFD1 | OLI298; OLI1565 |
| 2 variants linked to OFD1 | OFD1:p.Tyr437Phe; OFD1:c.2044A>C, p.Ile682Leu |
| 2 diseases linked to OFD1 | Adolescent idiopathic scoliosis; Syndrome with 46,XY disorder of sex development |