| Symbol
| UNC119
| contributors: mct/shn - updated : 31-08-2017
|
| HGNC name
| unc-119 homolog (C. elegans)
|
| HGNC id
| 12565
|
| corresponding disease(s)
|
IMD13
|
| Other morbid association(s)
|
| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| constitutional
| germinal mutation
|
|
|
| |
late onset cone rod dystrophy in a female heterozygous for a premature termination codon mutation | | constitutional
|
|
| --other
|
|
enhanced in CD4 T cells from patients with asthma  | | tumoral
|
|
| --over
|
| |
in hepatocellular carcinoma (HCC) tissues | |
Variant & Polymorphism
| 
| |
| Candidate gene
| a strong candidate gene for retinal diseases ( |
Marker
Therapy target
|
| | |
|
| transgenic mice carrying a premature termination codon mutation developed age-dependent fundus lesions with electroretinographic changes consistent with defects in photoreceptor synaptic transmission , and retinal degeneration ( | |
reduction in proteins associated with synaptic vesicles and a possible compensatory increase in proteins involved in docking-exocytosis and endocytosis were observed in both the outer and inner plexiform layers of the retina of the transgenic HRG4 mouse model ( |
|
deletion of UNC119 gene in both mouse and C. elegans led to G protein mislocalization ( |