rs1578860322
This variant is located in the LRAT gene.
▶ClinVar annotation
Leber congenital amaurosis 1; not provided; Leber congenital amaurosis 14
View on ClinVar →About LRAT
The protein encoded by this gene localizes to the endoplasmic reticulum, where it catalyzes the esterification of all-trans-retinol into all-trans-retinyl ester. This reaction is an important step in vitamin A metabolism in the visual system. Mutations in this gene have been associated with early-onset severe retinal dystrophy and Leber congenital amaurosis 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
View all LRAT variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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