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.
蛋白别名: Extracellular matrix organizing protein FRAS1; FLJ14927; FLJ22031; Fraser syndrome 1; Fraser syndrome 1 protein
基因别名: FRAS1; KIAA1500
UniProt ID: (Human) Q86XX4
Entrez Gene ID: (Human) 80144