UNC119 Chromosome 17
Unc-119 lipid binding chaperone
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What This Gene Does
This gene is specifically expressed in the photoreceptors in the retina. The encoded product shares strong homology with the C. elegans unc119 protein and it can functionally complement the C. elegans unc119 mutation. It has been localized to the photoreceptor synapses in the outer plexiform layer of the retina, and suggested to play a role in the mechanism of photoreceptor neurotransmitter release through the synaptic vesicle cycle. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
Associated Conditions (6)
See cases
Cone-rod dystrophy
Idiopathic CD4 lymphocytopenia
UNC119-related disorder
Macular dystrophy
Cone-rod dystrophy 24
Key Variants
RS1037207765
Conflicting classifications of pathogenicity
See cases, See cases
Health Risk
RS142549864
Conflicting classifications of pathogenicity
Health Risk
RS145972313
Conflicting classifications of pathogenicity
Cone-rod dystrophy, Cone-rod dystrophy
Health Risk
RS146916036
Conflicting classifications of pathogenicity
Cone-rod dystrophy, Idiopathic CD4 lymphocytopenia, UNC119-related disorder
Health Risk
RS543041170
Conflicting classifications of pathogenicity
Cone-rod dystrophy, Cone-rod dystrophy
Health Risk
RS561712812
Conflicting classifications of pathogenicity
Cone-rod dystrophy, Cone-rod dystrophy
Health Risk
RS749427491
Conflicting classifications of pathogenicity
Cone-rod dystrophy, Cone-rod dystrophy
Health Risk
RS763481567
Conflicting classifications of pathogenicity
Cone-rod dystrophy, UNC119-related disorder, Cone-rod dystrophy
Health Risk
RS764936506
Pathogenic/Likely pathogenic
Macular dystrophy, Cone-rod dystrophy 24, Macular dystrophy
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1037207765 | Health Risk | Conflicting classifications of pathogenicity | See cases, See cases |
| RS142549864 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145972313 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy, Cone-rod dystrophy |
| RS146916036 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy, Idiopathic CD4 lymphocytopenia, UNC119-related disorder |
| RS543041170 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy, Cone-rod dystrophy |
| RS561712812 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy, Cone-rod dystrophy |
| RS749427491 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy, Cone-rod dystrophy |
| RS763481567 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy, UNC119-related disorder, Cone-rod dystrophy |
| RS764936506 | Health Risk | Pathogenic/Likely pathogenic | Macular dystrophy, Cone-rod dystrophy 24, Macular dystrophy |