Human LDLRAP1 ELISA Kit (V2LY-0626-LY4829)

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Tested Data
Request for COA
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Basic Information

Sensitivity
0.0049 ng/mL
Detection Range
0.01-2 ng/mL
Sample Type
Serum, Plasma, cell culture supernates
Specificity
Human
Assay Type
Sandwich
Reactivity
Human
Assay Time
1.5 h
Molecule Mass
33.9 kDa
Components
  • Pre-coated ELISA plate: 12 wells * 8 detachable strips
  • Standard solution: 0.5ml x1
  • Standard diluent: 3ml x1
  • Streptavidin-HRP: 6ml x1
  • Stop solution: 6ml x1
  • Substrate solution A: 6ml x1
  • Substrate solution B: 6ml x1
  • Wash buffer concentrate (25x): 20ml x1
  • Biotinylated antibody: 1ml x1

Formulations & Storage [For reference only, actual COA shall prevail!]

Storage
Store at 2-8°C
More Infomation

Target

Full Name
low density lipoprotein receptor adaptor protein 1
Function
Adapter protein (clathrin-associated sorting protein (CLASP)) required for efficient endocytosis of the LDL receptor (LDLR) in polarized cells such as hepatocytes and lymphocytes, but not in non-polarized cells (fibroblasts). May be required for LDL binding and internalization but not for receptor clustering in coated pits. May facilitate the endocytosis of LDLR and LDLR-LDL complexes from coated pits by stabilizing the interaction between the receptor and the structural components of the pits. May also be involved in the internalization of other LDLR family members. Binds to phosphoinositides, which regulate clathrin bud assembly at the cell surface. Required for trafficking of LRP2 to the endocytic recycling compartment which is necessary for LRP2 proteolysis, releasing a tail fragment which translocates to the nucleus and mediates transcriptional repression (By similarity).
Biological Process
Amyloid precursor protein metabolic processManual Assertion Based On ExperimentIMP:BHF-UCL
Cellular response to cytokine stimulusManual Assertion Based On ExperimentIMP:BHF-UCL
Cholesterol homeostasisManual Assertion Based On ExperimentIMP:BHF-UCL
Cholesterol metabolic process1 PublicationNAS:UniProtKB
Cholesterol transport1 PublicationNAS:UniProtKB
Low-density lipoprotein particle clearanceManual Assertion Based On ExperimentIMP:BHF-UCL
Positive regulation of cholesterol metabolic process1 PublicationIC:BHF-UCL
Positive regulation of low-density lipoprotein particle clearanceManual Assertion Based On ExperimentIMP:BHF-UCL
Positive regulation of receptor-mediated endocytosisManual Assertion Based On ExperimentIMP:UniProtKB
Positive regulation of receptor-mediated endocytosis involved in cholesterol transportManual Assertion Based On ExperimentIMP:BHF-UCL
Positive regulation of vascular associated smooth muscle cell proliferationManual Assertion Based On ExperimentIMP:BHF-UCL
Receptor internalizationManual Assertion Based On ExperimentIMP:BHF-UCL
Receptor-mediated endocytosisManual Assertion Based On ExperimentIDA:BHF-UCL
Receptor-mediated endocytosis involved in cholesterol transportManual Assertion Based On ExperimentIMP:BHF-UCL
Regulation of protein bindingManual Assertion Based On ExperimentIMP:UniProtKB
Regulation of protein localization to plasma membraneManual Assertion Based On ExperimentIMP:BHF-UCL
Cellular Location
Cytoplasm
Involvement in disease
Hypercholesterolemia, familial, 4 (FHCL4):
A form of hypercholesterolemia, a disorder of lipoprotein metabolism characterized by elevated serum low-density lipoprotein (LDL) cholesterol levels, which result in excess deposition of cholesterol in tissues and leads to xanthelasma, xanthomas, accelerated atherosclerosis and increased risk of premature coronary heart disease. FHCL4 inheritance is autosomal recessive.

Leigh, T., Kawai, T., Preston, K., Kelemen, S., Okune, R., St Paul, A., ... & Autieri, M. V. (2022). Deletion of LDLRAP1 induces atherosclerotic plaque formation, insulin resistance, and dysregulated insulin response in adipose tissue. The American Journal of Pathology, 192(7), 1092-1108.

Feng, S., Zhao, X., Wang, Y., Wang, Y., Chen, G., & Zhang, S. (2022). Autosomal recessive hypercholesterolemia caused by a novel LDLRAP1 variant and membranous nephropathy in a Chinese girl: a case report. Frontiers in Cardiovascular Medicine, 9, 811317.

Nikasa, P., Rabbani, B., Hejazi, M. S., Firouzi, A., Baharvand, H., Totonchi, M., & Mahdieh, N. (2021). A case of autosomal recessive hypercholesterolemia with a novel mutation in the LDLRAP1 gene. Clinical Pediatric Endocrinology, 30(4), 201-204.

Shaik, N. A., Al‐Qahtani, F., Nasser, K., Jamil, K., Alrayes, N. M., Elango, R., ... & Banaganapalli, B. (2020). Molecular insights into the coding region mutations of low‐density lipoprotein receptor adaptor protein 1 (LDLRAP1) linked to familial hypercholesterolemia. The Journal of Gene Medicine, 22(6), e3176.

Hayat, M., Kerr, R., Bentley, A. R., Rotimi, C. N., Raal, F. J., & Ramsay, M. (2020). Genetic associations between serum low LDL-cholesterol levels and variants in LDLR, APOB, PCSK9 and LDLRAP1 in African populations. PLoS One, 15(2), e0229098.

Rodríguez-Jiménez, C., Gómez-Coronado, D., Vargas, M. F., Cerrato, F., Lahoz, C., Saban-Ruiz, J., ... & Rodríguez-Nóvoa, S. (2019). A new variant (c. 1A> G) in LDLRAP1 causing autosomal recessive hypercholesterolemia: Characterization of the defect and response to PCSK9 inhibition. Atherosclerosis, 284, 223-229.

Shakhtshneider, E., Ivanoshchuk, D., Orlov, P., Timoshchenko, O., & Voevoda, M. (2019). Analysis of the LDLR, APOB, PCSK9 and LDLRAP1 genes variability in patients with familial hypercholesterolemia in West Siberia using targeted high throughput resequencing. Atherosclerosis, 287, e285.

Lang, C., Karunairetnam, S., Lo, K. R., Kralicek, A. V., Crowhurst, R. N., Gleave, A. P., ... & Ingram, J. R. (2019). Common variants of the plant microRNA-168a exhibit differing silencing efficacy for human low-density lipoprotein receptor adaptor protein 1 (LDLRAP1). MicroRNA, 8(2), 166-170.

Alnouri, F., Athar, M., Al-Allaf, F. A., Abduljaleel, Z., Taher, M. M., Bouazzaoui, A., ... & Albabtain, M. (2018). Novel combined variants of LDLR and LDLRAP1 genes causing severe familial hypercholesterolemia. Atherosclerosis, 277, 425-433.

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For research use only. Not intended for any clinical use.

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