DISEASES

Disease-gene associations mined from literature

Literature associating PFN1 and frontotemporal dementia

PFN1 [ENSP00000225655]

Epididymis tissue protein Li 184a; Binds to actin and affects the structure of the cytoskeleton. At high concentrations, profilin prevents the polymerization of actin, whereas it enhances it at low concentrations. By binding to PIP2, it inhibits the formation of IP3 and DG. Inhibits androgen receptor (AR) and HTT aggregation and binding of G-actin is essential for its inhibition of AR.

Synonyms:  PFN1,  PFN1p,  hPFN1,  I3L3D5,  K7EJ44 ...

Linkouts:  STRING  Pharos  UniProt  OMIM