DISEASES

Disease-gene associations mined from literature

Literature associating PACSIN3 and spondylometaphyseal dysplasia Kozlowski type

PACSIN3 [ENSP00000440945]

Protein kinase C and casein kinase substrate in neurons protein 3; Plays a role in endocytosis and regulates internalization of plasma membrane proteins. Overexpression impairs internalization of SLC2A1/GLUT1 and TRPV4 and increases the levels of SLC2A1/GLUT1 and TRPV4 at the cell membrane. Inhibits the TRPV4 calcium channel activity (By similarity).

Synonyms:  PACSIN3,  PACSIN3p,  hPACSIN3,  A0A0C4DGG1,  E9PIY1 ...

Linkouts:  STRING  Pharos  UniProt