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Mouse Anti-LSS Recombinant Antibody (CBXO-0324) (CBMAB-O0600-CQ)

This product is a mouse antibody that recognizes LSS. The antibody CBXO-0324 can be used for immunoassay techniques such as: WB, IP, IF, ELISA.
See all LSS antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
CBXO-0324
Application
WB, IP, IF, ELISA

Basic Information

Specificity
Human
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

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

Format
Liquid
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)
Introduction
The protein encoded by this gene catalyzes the conversion of (S)-2,3 oxidosqualene to lanosterol. The encoded protein is a member of the terpene cyclase/mutase family and catalyzes the first step in the biosynthesis of cholesterol, steroid hormones, and vitamin D. Alternative splicing results in multiple transcript variants encoding different isoforms.
Entrez Gene ID
4047
UniProt ID
P48449
Alternative Names
OSC; CTRCT4
Function
Key enzyme in the cholesterol biosynthesis pathway. Catalyzes the cyclization of (S)-2,3 oxidosqualene to lanosterol, a reaction that forms the sterol nucleus (PubMed:14766201, PubMed:7639730, PubMed:26200341).
Through the production of lanosterol may regulate lens protein aggregation and increase transparency (PubMed:26200341).
Biological Process
Cholesterol biosynthetic processManual Assertion Based On ExperimentIMP:BHF-UCL
Regulation of protein stabilityManual Assertion Based On ExperimentIMP:UniProtKB
Steroid biosynthetic processManual Assertion Based On ExperimentIMP:UniProtKB
Triterpenoid biosynthetic processIEA:InterPro
Cellular Location
Endoplasmic reticulum membrane
Involvement in disease
Cataract 44 (CTRCT44):
An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function.
Hypotrichosis 14 (HYPT14):
A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT14 is an autosomal recessive form characterized by sparse to absent lanugo-like scalp hair, sparse and brittle eyebrows, and sparse eyelashes and body hair.
Alopecia-intellectual disability syndrome 4 (APMR4):
An autosomal recessive disorder characterized by alopecia universalis, scaly skin, mild to severe intellectual disability, delayed or absent speech, and motor delay.

Sun, X., Zhang, J., Liu, H., Li, M., Liu, L., Yang, Z., ... & Zhang, S. (2023). Lanosterol synthase loss of function decreases the malignant phenotypes of HepG2 cells by deactivating the Src/MAPK signaling pathway. Oncology Letters, 26(1), 1-9.

Ma, P., Huang, J., Chen, B., Huang, M., Xiong, L., Chen, J., ... & Liu, Y. (2023). Lanosterol Synthase Prevents EMT During Lens Epithelial Fibrosis Via Regulating SREBP1. Investigative Ophthalmology & Visual Science, 64(15), 12-12.

Yang, F., Jiang, X., Zhu, Y., Lee, M., Xu, Z., Zhang, J., ... & Lin, Z. (2022). Biallelic variants in lanosterol synthase (LSS) cause palmoplantar keratoderma-congenital alopecia syndrome type 2. Journal of Investigative Dermatology, 142(10), 2687-2694.

Hubler, Z., Friedrich, R. M., Sax, J. L., Allimuthu, D., Gao, F., Rivera-León, A. M., ... & Adams, D. J. (2021). Modulation of lanosterol synthase drives 24, 25-epoxysterol synthesis and oligodendrocyte formation. Cell chemical biology, 28(6), 866-875.

Wada, Y., Kikuchi, A., Kaga, A., Shimizu, N., Ito, J., Onuma, R., ... & Kure, S. (2020). Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice. PLoS Genetics, 16(2), e1008628.

Iatrino, R., Lanzani, C., Bignami, E., Casamassima, N., Citterio, L., Meroni, R., ... & Simonini, M. (2019). Lanosterol synthase genetic variants, endogenous ouabain, and both acute and chronic kidney injury. American Journal of Kidney Diseases, 73(4), 504-512.

Hua, H., Yang, T., Huang, L., Chen, R., Li, M., Zou, Z., ... & Liu, Y. (2019). Protective effects of lanosterol synthase up-regulation in UV-B-induced oxidative stress. Frontiers in Pharmacology, 10, 947.

Besnard, T., Sloboda, N., Goldenberg, A., Küry, S., Cogné, B., Breheret, F., ... & Isidor, B. (2019). Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome. Genetics in Medicine, 21(9), 2025-2035.

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

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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