GENE NAME | FRAS1 |
CHROMOSOME | 4 |
ENSEMBL ID | ENSG00000138759 |
ENTREZ ID | 80144 |
UNIPROT ACCESSION NUMBER | Q86XX4 |
GO MOLECULAR FUNCTION | extracellular matrix structural constituent; metal ion binding |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | hsa04512 |
6 combinations linked to FRAS1 | OLI339; OLI348; OLI350; OLI352; OLI602; OLI351 |
7 variants linked to FRAS1 | FRAS1:c.7423G>A, p.Glu2475Lys; FRAS1:c.10930C>T, p.Leu3644=; FRAS1:c.7372-24A>G, ; FRAS1:c.8493C>G, p.Phe2831Leu; FRAS1:c.5857-434C>T, ; FRAS1:c.6569C>T, p.Ser2190Phe; FRAS1:c.4367T>C, p.Ile1456Thr |
3 diseases linked to FRAS1 | Isolated Klippel-Feil syndrome; Disorder of sex development; 46,XY disorder of sex development |