Human ERC1 blocking peptide

Name: Human ERC1 blocking peptide
SKU: CDBP1111
Rating: 5 (1 reviews)

Synthetic Human ERC1 blocking peptide for Apuri, BL, ELISA

COA

SDS

Datasheet

Summary

Product Overview

Blocking/Immunizing peptide for anti-ELKS/RAB6IP2 antibody

Target

ELKS / RAB6IP2

Nature

Synthetic

Tag/Conjugate

Unconjugated

Application Notes

For in vitro research use only. Not intended for any diagnostic or therapeutic purpose. Not for human or animal consumption.

Format

Lyophilized powder

Preservative

None

Storage

Shipped at ambient temperature, store at -20°C.

Entrez Gene ID

23085

Antigen Description

The protein encoded by this gene is a member of a family of RIM-binding proteins. RIMs are active zone proteins that regulate neurotransmitter release. This gene has been found fused to the receptor-type tyrosine kinase gene RET by gene rearrangement due to the translocation t(10;12)(q11;p13). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Function

Rab GTPase binding; leucine zipper domain binding; protein binding;

Synonyms

ERC1; ELKS/RAB6-interacting/CAST family member 1; ELKS; Cast2; RAB6IP2; ELKS/Rab6-interacting/CAST family member 1; RAB6 interacting protein 2; Rab6-interacting protein 2;

Citations

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Documents

pdf COA

pdf SDS

pdf Datasheet

QA & Reviews

Customer Reviews

References

A 1.5 Mb terminal deletion of 12p associated with autism spectrum disorder

GENE

Authors: Silva, Isabela M. W.; Rosenfeld, Jill; Antoniuk, Sergio A.; Raskin, Salmo; Sotomaior, Vanessa S.

Abstract

We report a patient with a terminal 12p deletion associated with autism spectrum disorder (ASD). This 12p13.33 deletion is 1.5 Mb in size and encompasses 13 genes (B4GALNT3, CCDC77, ERC1, FBXL14, IQSEC3, KDM5A, LINC00942, L00574538, NINJ2, RAD52, SLC6Al2, SLC6A13 and WNK1). All previous cases reported with partial monosomy of 12p13.33 are associated with neurodevelopmental delay, and we suggest that ERC1, which encodes a regulator of neurotransmitter release, is the best gene candidate contributing to this phenotype as well as to the ASD of our patient. (C) 2014 Elsevier B.V. All rights reserved.

Antibodies to active zone protein ERC1 in Lambert-Eaton myasthenic syndrome

HUMAN IMMUNOLOGY

Authors: Huijbers, Maartje G.; Lipka, Alexander F.; Potman, Marko; Hensbergen, Paul J.; Titulaer, Maarten J.; Niks, Erik H.; van der Maarel, Silvere M.; Klooster, Rinse; Verschuuren, Jan J.

Abstract

Lambert Eaton myasthenic syndrome (LEMS) is characterized by fluctuating muscle weakness and autonomic dysfunction. In 90% of the LEMS patients the disease is associated with auto-antibodies against the voltage-gated calcium channels (VGCC). Several auto-immune responses against other antigenic targets have been described to (co)-occur in LEMS patients. To identify new LEMS associated small cell lung cancer (SCLC) markers immunoprecipitation with a SCLC cell line was performed. We discovered strong immunoreactivity against the 120 kDa large ERC1 protein in one tumor-negative VGCC-positive LEMS patient. A recombinant ELISA assay and a cellular assay expressing GFP-tagged full length ERC1 were used to confirm the presence of auto-antibodies against ERC1 in this patient. Additional testing of 58 LEMS patients including 9 VGCC auto-antibody negative LEMS patients, 48 myasthenia gravis patients, 84 control patients with other diseases and 12 healthy controls revealed no other cases. ERC1 is therefore a new, but rare, antigen in LEMS. (c) 2013 American Society for Histocompatibility and Immunogenetics. Published byElsevier Inc. All rights reserved.