Disease-gene associations mined from literature

Literature associating CPNE1 and Baraitser-Winter syndrome

CPNE1 [ENSP00000317257]

Chromobindin 17; Calcium-dependent phospholipid-binding protein that plays a role in calcium-mediated intracellular processes. Involved in the TNF-alpha receptor signaling pathway in a calcium-dependent manner. Exhibits calcium-dependent phospholipid binding properties. Plays a role in neuronal progenitor cell differentiation; induces neurite outgrowth via a AKT-dependent signaling cascade and calcium-independent manner. May recruit target proteins to the cell membrane in a calcium-dependent manner. May function in membrane trafficking. Involved in TNF-alpha- induced NF-kappa-B transcriptional repression by inducing endoprotease processing of the transcription factor NF-kappa-B p65/RELA subunit. Also induces endoprotease processing of NF-kappa-B p50/NFKB1, p52/NFKB2, RELB and REL; Belongs to the copine family.

Synonyms:  CPNE1,  CPNE1p,  hCPNE1,  A6PVH9,  B0QZ18 ...

Linkouts:  STRING  Pharos  UniProt