PHIP
Function
Probable regulator of the insulin and insulin-like growth factor signaling pathways. Stimulates cell proliferation through regulation of cyclin transcription and has an anti-apoptotic activity through AKT1 phosphorylation and activation. Plays a role in the regulation of cell morphology and cytoskeletal organization.
Involvement in disease
Chung-Jansen syndrome
CHUJANS
An autosomal dominant disorder characterized by developmental delay, intellectual disability, autistic features, anxiety, hypotonia, obesity, and dysmorphic features.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Expressed in myeloma and epidermoid carcinoma cell lines.
Cellular localization
- Nucleus
Alternative names
DCAF14, WDR11, PHIP, PH-interacting protein, DDB1- and CUL4-associated factor 14, IRS-1 PH domain-binding protein, WD repeat-containing protein 11