Gene Symbol | FRAS1 |
Entrez Gene ID | 80144 |
Full Name | Fraser extracellular matrix complex subunit 1 |
Synonyms | FRASRS1 |
General protein information |
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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) |