ERRFI1

Chr 1

ERBB receptor feedback inhibitor 1

Also known as: GENE-33, MIG-6, MIG6, RALT

NCBI Gene: 54206 ENSG00000116285 UniProt: Q9UJM3

ERRFI1 encodes a negative regulator of EGFR signaling that inhibits EGFR catalytic activity by interfering with its dimerization and is important for normal keratinocyte proliferation, differentiation, and lung development. Mutations cause nonspecific intellectual disability with autosomal recessive inheritance. The gene shows tolerance to loss-of-function variants, suggesting complete loss of function may be compatible with survival.

ResearchSummary from RefSeq, UniProt

ERRFI1 is a cytoplasmic protein whose expression is upregulated with cell growth (Wick et al., 1995 [PubMed 7641805]). It shares significant homology with the protein product of rat gene-33, which is induced during cell stress and mediates cell signaling (Makkinje et al., 2000 [PubMed 10749885]; Fiorentino et al., 2000 [PubMed 11003669]).[supplied by OMIM, Mar 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.88

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)