Entrez gene ID | | 80144 |
Official gene symbol | | FRAS1 |
Full name | | Fraser syndrome 1 |
Aliases | | ,DKFZp686I05113,DKFZp686P08111,FLJ14927,FLJ22031,KIAA1500, |
Gene summary | | This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development. Mutations in this gene cause Fraser syndrome, a multisystem malformation that can include craniofacial, urogenital and respiratory system abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq] |
Location | | Chromosome: 4 Locus: 4q21.21 |
Gene position | | 78978724 - 79465423 Map Viewer |
Gene orientation | | plus |
Gene size | | 486700 bp |
Gene sequence |
| |
OMIM ID | | 607830 |
|