LRAT cdna clone
LRAT cDNA Clone
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
LRAT: Transfers the acyl group from the sn-1 position of phosphatidylcholine to all-trans retinol, producing all-trans retinyl esters. Retinyl esters are storage forms of vitamin A. LRAT plays a critical role in vision. It provides the all-trans retinyl ester substrates for the isomerohydrolase which processes the esters into 11-cis-retinol in the retinal pigment epithelium; due to a membrane-associated alcohol dehydrogenase, 11 cis-retinol is oxidized and converted into 11-cis-retinaldehyde which is the chromophore for rhodopsin and the cone photopigments. Defects in LRAT are a cause of Leber congenital amaurosis type 14 (LCA14). It is a severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. Belongs to the H-rev107 family.
Protein type: EC 2.3.1.135; Cofactor and Vitamin Metabolism - retinol; Transferase; Membrane protein, integral
Chromosomal Location of Human Ortholog: 4q32.1
Cellular Component: endoplasmic reticulum membrane; multivesicular body; perinuclear region of cytoplasm; rough endoplasmic reticulum
Molecular Function: O-palmitoyltransferase activity; phosphatidylcholine-retinol O-acyltransferase activity; transferase activity, transferring acyl groups
Biological Process: retinoid metabolic process
Disease: Leber Congenital Amaurosis 14; Retinitis Pigmentosa
Research Articles on LRAT
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Product Notes
The LRAT lrat (Catalog #AAA1276667) is a cDNA Clone and is intended for research purposes only. The product is available for immediate purchase. The amino acid sequence is listed below: atgaagaacc ccatgctgga ggtggtgtct ttactactgg agaagctgct cctcatctcc aacttcacgc tctttagttc gggcgccgcg ggcgaagaca aagggaggaa cagtttttat gaaaccagct ctttccaccg aggcgacgtg ctggaggtgc cccggaccca cctgacccac tatggcatct acctaggaga caaccgtgtt gcccacatga tgcccgacat cctgttggcc ctgacagacg acatggggcg cacgcagaag gtggtctcca acaagcgtct catcctgggc gttattgtca aagtggccag catccgcgtg gacacagtgg aggacttcgc ctacggagct aacatcctgg tcaatcacct ggacgagtcc ctccagaaaa aggcactgct caacgaggag gtggcgcgga gggctgaaaa gctgctgggc tttaccccct acagcctgct gtggaacaac tgcgagcact tcgtgaccta ctgcagatat ggcaccccga tcagtcccca gtccgacaag ttttgtgaga ctgtgaagat aattattcgt gatcagagaa gtgttcttgc ttcagcagtc ttgggattgg cgtctatagt ctgtacgggc ttggtatcat acactaccct tcctgcaatt tttattccat tcttcctatg gatggctggc taa. It is sometimes possible for the material contained within the vial of "LRAT, cDNA Clone" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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