Protein Domain : RFX-like DNA-binding protein IPR039779

Type  Family
Description  This entry includes Rfx1 from budding yeasts, Sak1 from fission yeasts and RFX1-8 from humans [ ]. They are transcription factors that contain a RFX DNA binding domain and a conserved C-terminal region [].Mutations in the RFX5 gene cause Bare lymphocyte syndrome 2 (BLS2), a severe combined immunodeficiency disease with early onset [ ]. Mutations in the RFX6 gene cause Mitchell-Riley syndrome (MTCHRS), a disorder characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, and absent gallbladder [, ].
Short Name  RFX-like

0 Child Features

0 Gene Families

0 Genes

1 Ontology Annotations

0 Parent Features

0 Publications

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