| Gene Symbol | FRAS1 |
| Entrez Gene ID | 80144 |
| Full Name | Fraser extracellular matrix complex subunit 1 |
| Synonyms | FRASRS1 |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| 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, Oct 2009]. |
| Disorder MIM: | |
| Disorder Html: | Fraser syndrome 1, 219000 (3) |







































User Manual