PHIP

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.

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.

Expressed in myeloma and epidermoid carcinoma cell lines.

• Nucleus

DCAF14, WDR11, PHIP, PH-interacting protein, DDB1- and CUL4-associated factor 14, IRS-1 PH domain-binding protein, WD repeat-containing protein 11

• entrezGene:55023
• omim:612870
• swissprot:Q8WWQ0

Proteins

Immunology & Infectious Disease

206689Da