RFX-like DNA-binding protein

Definition

This entry includes Rfx1 from budding yeasts, Sak1 from fission yeasts and RFX1-8 from humans PMID:18673564. They are transcription factors that contain a RFX DNA binding domain and a conserved C-terminal region PMID:10556033. Mutations in the RFX5 gene cause Bare lymphocyte syndrome 2 (BLS2), a severe combined immunodeficiency disease with early onset PMID:10825209. Mutations in the RFX6 gene cause Mitchell-Riley syndrome (MTCHRS), a disorder characterised by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, and absent gallbladder [[cite:PMID:20148032], [cite:PMID:25497100]].

8 human proteins with this domain

Each is a reviewed human protein in the Seroatlas serome and a potential autoantibody target; this domain groups them into one antibody-relevant category. Every entry links to its own record.

Download CSV (8 proteins: gene, accession, name)

• RFX1
• RFX2
• RFX3
• RFX4
• RFX5
• RFX6
• RFX7
• RFX8