Mouse Anti-AAAS Recombinant Antibody (V2-178851) (CBMAB-A0068-YC)

Name: Mouse Anti-AAAS Recombinant Antibody (V2-178851)
SKU: CBMAB-A0068-YC
Rating: 5 (1 reviews)

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Datasheet

SDS

Request for COA

Datasheet Target References Q & As Review & reward Protocols Associated Products

Basic Information

Host Animal

Mouse

Clone

V2-178851

Application

ELISA, IHC, WB

Immunogen

Partial recombinant corresponding to aa1-101 from AAAS (NP_056480) with GST tag.

Specificity

Human, Mouse, Rat

Antibody Isotype

IgG2a, κ

Clonality

Monoclonal

Application Notes

The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Application	Note
IHC	3 µg/ml

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

Format

Liquid in PBS, pH 7.2

Buffer

PBS, pH7.4

Preservative

None

Concentration

Batch dependent

Storage

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

More Infomation

Target

Full Name

achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)

Introduction

AAAS is a member of the WD-repeat family of regulatory proteins and may be involved in normal development of the peripheral and central nervous system. The encoded protein is part of the nuclear pore complex and is anchored there by NDC1. Defects in this

Entrez Gene ID

Human	8086
Mouse	223921
Rat	300259

UniProt ID

Human	Q9NRG9
Mouse	P58742

Alternative Names

Aladin WD Repeat Nucleoporin; Adracalin; Achalasia, Adrenocortical Insufficiency, Alacrimia; Allgrove, Triple-A; ADRACALA; Aladin;

Function

Plays a role in the normal development of the peripheral and central nervous system (PubMed:11062474. Required for the correct localization of aurora kinase AURKA and the microtubule minus end-binding protein NUMA1 as well as a subset of AURKA targets which ensures proper spindle formation and timely chromosome alignment.

Biological Process

Fertilization
Intracellular transport of virus
Learning
Microtubule bundle formation
Mitotic spindle assembly
mRNA export from nucleus
Nucleocytoplasmic transport
Protein sumoylation
Regulation of cellular response to heat
Regulation of gene silencing by miRNA
Regulation of glycolytic process
Regulation of nucleocytoplasmic transport
tRNA export from nucleus
Viral life cycle
Viral process
Viral transcription

Cellular Location

Nuclear pore complex; Nucleus envelope; Spindle pole. In metaphase cells localizes within the spindle with some accumulation around spindle poles, with the highest concentration between the centrosome and metaphase plate. The localization to the spindle is microtubule-mediated.

Involvement in disease

An autosomal recessive disorder characterized by adreno-corticotropic hormone (ACTH)-resistant adrenal failure, achalasia of the esophageal cardia and alacrima. The syndrome is associated with variable and progressive neurological impairment involving the central, peripheral, and autonomic nervous system. Other features such as palmoplantar hyperkeratosis, short stature, facial dysmorphy and osteoporosis may also be present.

Jayant, S. S., Gupta, R., Agrawal, K., Das, L., Dutta, P., & Bhansali, A. (2021). Triple A (Allgrove) syndrome due to AAAS gene mutation with a rare association of amyotrophy. Hormones, 20(1), 197-205.

Vezzoli, V., Duminuco, P., Pogliaghi, G., Saccone, M., Cangiano, B., Rosatelli, M. C., ... & Bonomi, M. (2020). Two novel truncating variants of the AAAS gene causative of the triple A syndrome. Journal of endocrinological investigation, 1-10.

Bouliari, A., Lu, X., Persky, R. W., & Stratakis, C. A. (2019). Triple A syndrome: Two siblings with a novel mutation in the AAAS gene. Hormones, 18(1), 109-112.

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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)
Proteogenomics
Other Protocols

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

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