DISEASES

Disease-gene associations mined from literature

Literature associating PICALM and subvalvular aortic stenosis

PICALM [ENSP00000377015]

Phosphatidylinositol-binding clathrin assembly protein; Cytoplasmic adapter protein that plays a critical role in clathrin-mediated endocytosis which is important in processes such as internalization of cell receptors, synaptic transmission or removal of apoptotic cells. Recruits AP-2 and attaches clathrin triskelions to the cytoplasmic side of plasma membrane leading to clathrin-coated vesicles (CCVs) assembly . Furthermore, regulates clathrin-coated vesicle size and maturation by directly sensing and driving membrane curvature . In addition to binding to clathrin, mediates the endocytosis of small R- SNARES (Soluble NSF Attachment Protein REceptors) between plasma membranes and endosomes including VAMP2, VAMP3, VAMP4, VAMP7 or VAMP8 . In turn, PICALM- dependent SNARE endocytosis is required for the formation and maturation of autophagic precursors . Modulates thereby autophagy and the turnover of autophagy substrates such as MAPT/TAU or amyloid precursor protein cleaved C-terminal fragment (APP- CTF) . ECO:0000269|PubMed:16262731, ECO:0000269|PubMed:21808019, ECO:0000269|PubMed:22118466, ECO:0000269|PubMed:23741335, ECO:0000269|PubMed:24067654, ECO:0000269|PubMed:25241929,

Synonyms:  PICALM,  A0A024R5L7,  A0A024R5P1,  E9PI56,  E9PJT1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM