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]
SKU | Test Kits | Buffer | Dye Color | Order Now |
---|---|---|---|---|
LRAT-20-RE | 20 (40 μL) | 200 μL | Request Pricing | |
LRAT-20-OR | 20 (40 μL) | 200 μL | Request Pricing | |
LRAT-20-GO | 20 (40 μL) | 200 μL | Request Pricing | |
LRAT-20-GR | 20 (40 μL) | 200 μL | Request Pricing | |
LRAT-20-AQ | 20 (40 μL) | 200 μL | Request Pricing |
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]
Gene Symbol : LRAT
Gene Name : Lecithin retinol acyltransferase
Chromosome : CHR 4: 154,740,840-154,753,118
Locus : 4q32.1
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