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Immunogen sequence: IWIQLNYLPS YGTLLRISGS EVEELSEVSN FTMEDINNKK IRYSAVFETD GHLVTDSFYF SVSDMDHNHL DNQIFTIMIT PAENPPPVIA FADLITVDEG GRAPLSFHHF FATDDDDNLQ RDAIIKLSAL PKYGCIENTG TGDRFG
Highest antigen sequence identity to the following orthologs: Mouse - 79%, Rat - 79%.
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Extracellular matrix organizing protein FRAS1; FLJ14927; FLJ22031; Fraser syndrome 1; Fraser syndrome 1 protein
Gene Aliases: FRAS1; KIAA1500
UniProt ID: (Human) Q86XX4
Entrez Gene ID: (Human) 80144
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