LIPA cdna clone
LIPA cDNA Clone
NCBI and Uniprot Product Information
NCBI Description
This gene encodes lipase A, the lysosomal acid lipase (also known as cholesterol ester hydrolase). This enzyme functions in the lysosome to catalyze the hydrolysis of cholesteryl esters and triglycerides. Mutations in this gene can result in Wolman disease and cholesteryl ester storage disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014]
Uniprot Description
LIPA: Crucial for the intracellular hydrolysis of cholesteryl esters and triglycerides that have been internalized via receptor- mediated endocytosis of lipoprotein particles. Important in mediating the effect of LDL (low density lipoprotein) uptake on suppression of hydroxymethylglutaryl-CoA reductase and activation of endogenous cellular cholesteryl ester formation. Defects in LIPA are the cause of Wolman disease (WOD). WOD is a severe manifestation of LIPA deficiency, leading to the accumulation of cholesteryl esters and triglycerides in most tissues of the body. WOD occurs in infancy and is nearly always fatal before the age of 1 year. Defects in LIPA are the cause of cholesteryl ester storage disease (CESD). CESD is a mild manifestation of LIPA deficiency, leading to the accumulation of cholesteryl esters and triglycerides in most tissues of the body. It is characterized by late-onset. Belongs to the AB hydrolase superfamily. Lipase family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Lipid Metabolism - steroid biosynthesis; EC 3.1.1.13; Hydrolase
Chromosomal Location of Human Ortholog: 10q23.2-q23.3
Molecular Function: lipase activity; sterol esterase activity
Disease: Lysosomal Acid Lipase Deficiency
Research Articles on LIPA
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Product Notes
The LIPA lipa (Catalog #AAA1270967) 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: atgaaaatgc ggttcttggg gttggtggtc tgtttggttc tctggcccct gcattctgag gggtctggag ggaaactgac agctttggat cctgaaacaa acatgaatgt gagtgaaatt atctcttact ggggattccc tagtgaggaa tacctagttg agacagaaga tggatatatt ctgtgcctta accgaattcc tcatgggagg aagaaccatt ctgacaaagg tcccaaacca gttgtcttcc tgcaacatgg cttgctggca gattctagta actgggtcac aaaccttgcc aacagcagcc tgggcttcat tcttgctgat gctggttttg acgtgtggat gggcaacagc agaggaaata cctggtctcg gaaacataag acactctcag tttctcagga tgaattctgg gctttcagtt atgatgagat ggcaaaatat gacctaccag cttccattaa cttcattctg aataaaactg gccaagaaca agtgtattat gtgggtcatt ctcaaggcac cactataggt tttatagcat tttcacagat ccctgagctg gctaaaagga ttaaaatgtt ttttgccctg ggtcctgtgg cttccgtcgc cttctgtact agccctatgg ccaaattagg acgattacca gatcatctca ttaaggactt atttggagac aaagaatttc ttccccagag tgcgtttttg aagtggctgg gtacccacgt ttgcactcat gtcatactga aggagctctg tggaaatctc tgttttcttc tgtgtggatt taatgagaga aatttaaata tgtctagagt ggatgtatat acaacacatt ctcctgctgg aacttctgtg caaaacatgt tacactggag ccaggctgtt aaattccaaa agtttcaagc ctttgactgg ggaagcagtg ccaagaatta ttttcattac aaccagagtt atcctcccac atacaatgtg aaggacatgc ttgtgccgac tgcagtctgg agcgggggtc acgactggct tgcagatgtc tacgacgtca atatcttact gactcagatc accaacttgg tgttccatga gagcattccg gaatgggagc atcttgactt catttggggc ctggatgccc cttggaggct ttataataaa attattaatc taatgaggaa atatcagtga. It is sometimes possible for the material contained within the vial of "LIPA, 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
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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