IRF2BPL
Function
Probable E3 ubiquitin protein ligase involved in the proteasome-mediated ubiquitin-dependent degradation of target proteins (PubMed:29374064). Through the degradation of CTNNB1, functions downstream of FOXF2 to negatively regulate the Wnt signaling pathway (PubMed:29374064). Probably plays a role in the development of the central nervous system and in neuronal maintenance (Probable). Also acts as a transcriptional regulator of genes controlling female reproductive function. May play a role in gene transcription by transactivating GNRH1 promoter and repressing PENK promoter (By similarity).
Involvement in disease
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
NEDAMSS
An autosomal dominant disorder characterized by global developmental delay or neurodevelopmental regression, hypotonia, progressive ataxia, intellectual disability, seizures, and abnormal movements.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Protein modification; protein ubiquitination.
Sequence Similarities
Belongs to the IRF2BP family.
Tissue Specificity
Highly expressed in the heart, moderately in skeletal muscle and pancreas, and weakly in brain, kidney, liver, testis, thyroid gland and lymphocytes.
Cellular localization
- Nucleus
Alternative names
C14orf4, EAP1, KIAA1865, My039, IRF2BPL, Probable E3 ubiquitin-protein ligase IRF2BPL, Enhanced at puberty protein 1, Interferon regulatory factor 2-binding protein-like