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Products:Epigenetics and Nuclear Signaling >> Chromatin Remodeling >> Swi / Snf
Overview
Product name
Anti-ATRX antibody
See all ATRX products (6) ...
Description
Mouse monoclonal to ATRX
Tested applications
Cross reactivity
Reacts with
Recombinant Fragment
Predicted to work with
Human
Immunogen
Recombinant fragment: FNLGALSAMS NQQLEDLINQ GREKVVEATN SVTAVRIQPL EDIISAVWKE NMNLSEAQVQ ALALSRQASQ ELDVKRREAI YNDVLTKQQM LISCVQRILM , corresponding to amino acids 2311-2411 of Human ATRX
FNLGALSAMS NQQLEDLINQ GREKVVEATN SVTAVRIQPL EDIISAVWKE NMNLSEAQVQ ALALSRQASQ ELDVKRREAI YNDVLTKQQM LISCVQRILM
Properties
Form
Liquid
Storage instructions
Shipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.
Storage buffer
Preservative: None
PBS, pH 7.2
Concentration
Concentration information loading...
Purity
Protein G purified
Clonality
Monoclonal
Isotype
IgG1
Light chain type
kappa
Research areas
Epigenetics and Nuclear Signaling >> Chromatin Remodeling >> Swi / Snf
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Western blot - ATRX antibody (ab54794)
(enlarge)
Applications
Show applications key
Our Abpromise guarantee covers the use of ab54794 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
- 1 Image
WB
Application notes
WB: Use at a concentration of 1-5 µg/ml.
This antibody has only been tested in WB against the recombinant fragment used as immunogen. We have no data on the detection of endogenous protein.
Not yet tested in other applications.
Optimal dilutions/concentrations should be determined by the end user.
Target
Function
Could be a global transcriptional regulator. Modifies gene expression by affecting chromatin. May be involved in brain development and facial morphogenesis.
Tissue specificity
Ubiquitous.
Involvement in disease
Defects in ATRX are the cause of alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]. ATR-X is an X-linked disorder comprising severe psychomotor retardation, facial dysmorphism, urogenital abnormalities, and alpha-thalassemia. An essential phenotypic trait are hemoglobin H erythrocyte inclusions.
Defects in ATRX are the cause of mental retardation syndromic X-linked with hypotonic facies syndrome type 1 (MRXSHF1) [MIM:309580]; also called Carpenter-Waziri syndrome (CWS), Juberg-Marsidi syndrome (JMS), Smith-Fineman-Myers syndrome type 1 (SFM1). Clinical features include severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women. Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects.
Defects in ATRX are a cause of alpha-thalassemia myelodysplasia syndrome (ATMDS) [MIM:300448]. In this disorder, alpha-thalassemia occurs as an acquired abnormality in association with a multilineage myelodysplasia.
Sequence similarities
Belongs to the SNF2/RAD54 helicase family.
Contains 1 ADD domain.
Contains 1 GATA-type zinc finger.
Contains 1 helicase ATP-binding domain.
Contains 1 helicase C-terminal domain.
Contains 1 PHD-type zinc finger.
Domain
Contains one Pro-Xaa-Val-Xaa-Leu (PxVxL) motif, which is required for interaction with chromoshadow domains. This motif requires additional residues -7, -6, +4 and +5 of the central Val which contact the chromoshadow domain.
Post-translational
modifications
Phosphorylated upon DNA damage, probably by ATM or ATR.
Cellular localization
Nucleus. Associated with pericentromeric heterochromatin during interphase and mitosis, probably by interacting with HP1.
Target information above from: UniProt accessionP46100
The UniProt Consortium
The Universal Protein Resource (UniProt) in 2010
Nucleic Acids Res. 38:D142-D148 (2010).
Alternative names
- Alpha thalassemia/mental retardation syndrome X linked homolog antibody
- alpha thalassemia/mental retardation syndrome X-linked homolog antibody
- ATP dependent helicase ATRX antibody
see all
Database links
- Entrez Gene: 546 Human
- Omim: 301040 Human
- SwissProt: P46100 Human
- Unigene: 533526 Human
- Unigene: 653797 Human
Anti-ATRX antibody images:
Western blot - ATRX antibody (ab54794)
Western blot against tagged recombinant protein immunogen using ab54794 ATRX antibody at 1ug/ml. Predicted band size of immunogen is 38 kDa.
This antibody has only been tested in WB against the recombinant fragment used as immunogen. We have no data on the detection of endogenous protein.
References for Anti-ATRX antibody (ab54794)
ab54794 has not yet been referenced specifically in any publications.
Publishing research using ab54794? Please let us know so that we can cite the reference in this datasheet
Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"