Defective LRAT does not esterify RBP1:atROL and FACYLs to atREs

Stable Identifier
R-HSA-2466710
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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Normally functioning lecithin retinol acyltransferase (LRAT) mediates the transfer of an acyl group onto all-trans-retinol (atROL), forming retinyl esters (REs), the storage form of retinoids. Defects in LRAT cause Leber congenital amaurosis type 14 (LCA14, MIM:613341), an autosomal recessive juvenile-onset retinal dystrophy affecting rod and cone photoreceptors. Leber congenital amaurosis (LCA) comprises a group of early-onset retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction (Chung & Traboulsi 2009). Loss of function is caused by the mutants S175R, 396delAA (Thompson et al. 2001) and 217delAT (Senechal et al. 2006, den Hollander et al. 2007) (the latter two not displayed).

Literature References
PubMed ID Title Journal Year
11381255 Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy

Thompson, DA, Li, Y, McHenry, CL, Carlson, TJ, Ding, X, Sieving, PA, Apfelstedt-Sylla, E, Gal, A

Nat. Genet. 2001
18055821 Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays

den Hollander, AI, Lopez, I, Yzer, S, Zonneveld, MN, Janssen, IM, Strom, TM, Hehir-Kwa, JY, Veltman, JA, Arends, ML, Meitinger, T, Musarella, MA, van den Born, LI, Fishman, GA, Maumenee, IH, Rohrschneider, K, Cremers, FP, Koenekoop, RK

Invest. Ophthalmol. Vis. Sci. 2007
17011878 Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis

Sénéchal, A, Humbert, G, Surget, MO, Bazalgette, C, Bazalgette, C, Arnaud, B, Arndt, C, Laurent, E, Brabet, P, Hamel, CP

Am. J. Ophthalmol. 2006
20006823 Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions

Chung, DC, Traboulsi, EI

J AAPOS 2009
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
O-palmitoyltransferase activity of LRAT S175R [endoplasmic reticulum membrane]
Physical Entity
Activity
Normal reaction
Disease
Name Identifier Synonyms
Leber congenital amaurosis 14791 Leber's disease, Leber's congenital amaurosis, AMAUROSIS CONGENITA OF LEBER I, Leber's disease, Leber's amaurosis (disorder)
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