DISEASES

Disease-gene associations mined from literature

Literature associating UNC119 and cone-rod dystrophy

UNC119 [ENSP00000337040]

Unc-119 homolog (C. elegans); Involved in synaptic functions in photoreceptor cells, the signal transduction in immune cells as a Src family kinase activator, endosome recycling, the uptake of bacteria and endocytosis, protein trafficking in sensory neurons and as lipid- binding chaperone with specificity for a diverse subset of myristoylated proteins. Specifically binds the myristoyl moiety of a subset of N-terminally myristoylated proteins and is required for their localization. Binds myristoylated GNAT1 and is required for G-protein localization and trafficking in sensory neurons. Probably plays a role in trafficking proteins in photoreceptor cells. Plays important roles in mediating Src family kinase signals for the completion of cytokinesis via RAB11A.

Synonyms:  UNC119,  UNC119p,  hUNC119,  C9JSK0,  DKFZP686E1393 ...

Linkouts:  STRING  Pharos  UniProt  OMIM