Mouse Anti-EML1 (AA 1-99) Recombinant Antibody (CBFYE-0827) (CBMAB-E1281-FY)

This product is mouse antibody that recognizes EML1. The antibody CBFYE-0827 can be used for immunoassay techniques such as: ELISA, WB.
See all EML1 antibodies

Datasheet

Summary

Host Animal

Mouse

Specificity

Human

Clone

CBFYE-0827

Antibody Isotype

IgM, κ

Application

ELISA, WB

Basic Information

Immunogen

EML1 partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa. Immunogen sequence: MEDGFSSYSS LYDTSSLLQF CNDDSASAAS SMEVTDRIAS LEQRVQMQED DIQLLKSALA DVVRRLNITE EQQAVLNRKG PTKARPLMQT LPLRTTVNN

Specificity

Human

Antibody Isotype

IgM, κ

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.

Epitope

AA 1-99

Target

Full Name

Echinoderm Microtubule Associated Protein Like 1

Introduction

Human echinoderm microtubule-associated protein-like is a strong candidate for the Usher syndrome type 1A gene. Usher syndromes (USHs) are a group of genetic disorders consisting of congenital deafness, retinitis pigmentosa, and vestibular dysfunction of variable onset and severity depending on the genetic type. The disease process in USHs involves the entire brain and is not limited to the posterior fossa or auditory and visual systems. The USHs are catagorized as type I (USH1A, USH1B, USH1C, USH1D, USH1E and USH1F), type II (USH2A and USH2B) and type III (USH3). The type I is the most severe form. Gene loci responsible for these three types are all mapped. Two transcript variants encoding different isoforms have been found for this gene.

Entrez Gene ID

2009

UniProt ID

O00423

Alternative Names

Echinoderm Microtubule Associated Protein Like 1; HuEMAP-1; EMAP-1; EMAPL; Echinoderm Microtubule-Associated Protein-Like 1; HuEMAP

Research Area

Modulates the assembly and organization of the microtubule cytoskeleton, and probably plays a role in regulating the orientation of the mitotic spindle and the orientation of the plane of cell division. Required for normal proliferation of neuronal progenitor cells in the developing brain and for normal brain development. Does not affect neuron migration per se.

Biological Process

Brain development Source: UniProtKB
Hematopoietic progenitor cell differentiation Source: Ensembl
Microtubule cytoskeleton organization Source: UniProtKB
Mitotic spindle organization Source: UniProtKB
Neuroblast proliferation Source: UniProtKB

Cellular Location

Cytoskeleton; Cytoplasm; Perinuclear region. Detected in cytoplasmic punctae. Co-localizes with microtubules (PubMed:24859200). Enriched in perinuclear regions during interphase and in the region of spindle microtubules during metaphase. Enriched at the midzone during telophase and cytokinesis. Detected at growth cones in neurons (By similarity).

Involvement in disease

Band heterotopia (BH):
A brain malformation of the lissencephaly spectrum, resulting from disordered neuronal migration and characterized by bands of gray matter interposed in the central white matter. Disease features include severe developmental delay with intellectual disability, enlarged head circumference, periventricular and ribbon-like subcortical heterotopia, polymicrogyria and agenesis of the corpus callosum.

References

Markus, F., Kannengießer, A., Näder, P., Atigbire, P., Scholten, A., Vössing, C., ... & Neidhardt, J. (2021). A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects. Journal of human genetics, 66(12), 1159-1167.

Collin, G. B., Won, J., Krebs, M. P., Hicks, W. J., Charette, J. R., Naggert, J. K., & Nishina, P. M. (2020). Disruption in murine Eml1 perturbs retinal lamination during early development. Scientific reports, 10(1), 1-13.

Oegema, R., McGillivray, G., Leventer, R., Le Moing, A. G., Bahi‐Buisson, N., Barnicoat, A., ... & Lequin, M. H. (2019, December). EML1‐associated brain overgrowth syndrome with ribbon‐like heterotopia. In American Journal of Medical Genetics Part C: Seminars in Medical Genetics (Vol. 181, No. 4, pp. 627-637). Hoboken, USA: John Wiley & Sons, Inc..

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Protocols

Please try the standard protocols which include: protocols, troubleshooting and guide.

Enzyme-linked Immunosorbent Assay (ELISA)
Flow Cytometry
Immunofluorescence (IF)
Immunohistochemistry (IHC)
Immunoprecipitation (IP)
Western Blot (WB)
Enzyme Linked Immunospot (ELISpot)
Proteogenomic
Other Protocols

Associated Products

Isotype control

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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