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FRAS1 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.
Gene Name: | Fraser Syndrome 1 |
Synonyms: | FRAS1, Fraser syndrome 1, KIAA1500 |
Target Sequences: | NM_025074 |
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