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Rabbit Anti-ERLIN2 Recombinant Antibody (CBXS-1596) (CBMAB-S4445-CQ)

This product is a rabbit antibody that recognizes ERLIN2. The antibody CBXS-1596 can be used for immunoassay techniques such as: WB, IHC-P, ICC.
See all ERLIN2 antibodies

Summary

Host Animal
Rabbit
Specificity
Human
Clone
CBXS-1596
Antibody Isotype
IgG
Application
WB, IHC-P, ICC

Basic Information

Specificity
Human
Antibody Isotype
IgG
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!]

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
ER Lipid Raft Associated 2
Introduction
This gene encodes a member of the SPFH domain-containing family of lipid raft-associated proteins. The encoded protein is localized to lipid rafts of the endoplasmic reticulum and plays a critical role in inositol 1,4,5-trisphosphate (IP3) signaling by mediating ER-associated degradation of activated IP3 receptors. Mutations in this gene are a cause of spastic paraplegia-18 (SPG18). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
Entrez Gene ID
11160
UniProt ID
O94905
Alternative Names
ER Lipid Raft Associated 2; Stomatin-Prohibitin-Flotillin-HflC/K Domain-Containing Protein 2; Endoplasmic Reticulum Lipid Raft-Associated Protein 2; Spastic Paraplegia 18 (Autosomal Dominant); SPFH Domain Family, Member 2; C8orf2; SPFH2;
Research Area
Component of the ERLIN1/ERLIN2 complex which mediates the endoplasmic reticulum-associated degradation (ERAD) of inositol 1,4,5-trisphosphate receptors (IP3Rs) such as ITPR1 (PubMed:19240031, PubMed:17502376).

Promotes sterol-accelerated ERAD of HMGCR probably implicating an AMFR/gp78-containing ubiquitin ligase complex (PubMed:21343306).

Involved in regulation of cellular cholesterol homeostasis by regulation the SREBP signaling pathway. May promote ER retention of the SCAP-SREBF complex (PubMed:24217618).
Biological Process
Cholesterol metabolic process Source: UniProtKB-KW
Negative regulation of cholesterol biosynthetic process Source: UniProtKB
Negative regulation of fatty acid biosynthetic process Source: UniProtKB
SREBP signaling pathway Source: UniProtKB
Ubiquitin-dependent ERAD pathway Source: UniProtKB
Cellular Location
Endoplasmic reticulum membrane. Associated with lipid raft-like domains of the endoplasmic reticulum membrane.
Involvement in disease
Spastic paraplegia 18, autosomal recessive (SPG18):
A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG18 is a severe form with onset in early childhood. Most affected individuals have severe psychomotor retardation. Some may develop significant joint contractures.
Topology
Cytoplasmic: 1-3
Helical: 4-24
Lumenal: 25-339

Wolf, L. M., Lambert, A. M., Haenlin, J., & Boutros, M. (2021). EVI/WLS function is regulated by ubiquitylation and is linked to ER-associated degradation by ERLIN2. Journal of cell science, 134(16), jcs257790.

Park, J. M., Lee, B., Kim, J. H., Park, S. Y., Yu, J., Kim, U. K., & Park, J. S. (2020). An autosomal dominant ERLIN2 mutation leads to a pure HSP phenotype distinct from the autosomal recessive ERLIN2 mutations (SPG18). Scientific Reports, 10(1), 1-6.

Liu, Y., Xie, P., Jiang, D., Liu, J., Zhang, J., Bian, T., & Shi, J. (2020). Molecular and immune characteristics for lung adenocarcinoma patients with ERLIN2 overexpression. Frontiers in Immunology, 11, 568440.

Du, F., & Hou, Q. (2020). SNHG17 drives malignant behaviors in astrocytoma by targeting miR-876-5p/ERLIN2 axis. BMC cancer, 20(1), 1-10.

Srivastava, S., D’Amore, A., Cohen, J. S., Swanson, L. C., Ricca, I., Pini, A., ... & Santorelli, F. M. (2020). Expansion of the genetic landscape of ERLIN2‐related disorders. Annals of clinical and translational neurology, 7(4), 573-578.

Muratet, F., Teyssou, E., Banneau, G., Danel-Brunaud, V., Allart, E., Antoine, J. C., ... & Millecamps, S. (2019). Spastic paraplegia due to recessive or dominant mutations in ERLIN2 can convert to ALS. Neurology Genetics, 5(6).

Wright, F. A., Bonzerato, C. G., Sliter, D. A., & Wojcikiewicz, R. J. (2018). The erlin2 T65I mutation inhibits erlin1/2 complex–mediated inositol 1, 4, 5-trisphosphate receptor ubiquitination and phosphatidylinositol 3-phosphate binding. Journal of Biological Chemistry, 293(40), 15706-15714.

Wu, H., Li, J., Luo, S., & Wang, G. (2018). MiR-410 acts as a tumor suppressor in estrogen receptor-positive breast cancer cells by directly targeting ERLIN2 via the ERS pathway. Cellular Physiology and Biochemistry, 48(2), 461-474.

Rydning, S. L., Dudesek, A., Rimmele, F., Funke, C., Krüger, S., Biskup, S., ... & Kamm, C. (2018). A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia. European Journal of Neurology, 25(7), 943-e71.

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

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