DISEASES

Disease-gene associations mined from literature

Literature associating EHBP1 and Bardet-Biedl syndrome 7

EHBP1 [ENSP00000263991]

EH domain binding protein 1; May play a role in actin reorganization. Links clathrin- mediated endocytosis to the actin cytoskeleton. May act as Rab effector protein and play a role in vesicle trafficking. Required for perinuclear sorting and insulin-regulated recycling of SLC2A4/GLUT4 in adipocytes (By similarity); NT-C2 domain containing

Synonyms:  EHBP1,  EHBP1p,  hEHBP1,  B3KM32,  B5MC86 ...

Linkouts:  STRING  Pharos  UniProt  OMIM