UNC119 Chromosome 17

Unc-119 lipid binding chaperone
9 variants 9 Health Risk

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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
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
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