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HPA002919

Anti-OPHN1 antibody produced in rabbit

Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody, buffered aqueous glycerol solution

Synonym(s):

Anti-Oligophrenin 1 antibody produced in rabbit

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100 μL
Usually ships in 1 week. (Orders outside of US and Europe, please allow an additional 1-2 weeks for delivery)
$667.00

About This Item

UNSPSC Code:
12352203
NACRES:
NA.41
Human Protein Atlas Number:
Conjugate:
unconjugated
Clone:
polyclonal
Application:
IHC
Citations:
5

$667.00


Usually ships in 1 week. (Orders outside of US and Europe, please allow an additional 1-2 weeks for delivery)

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biological source

rabbit

Quality Level

conjugate

unconjugated

antibody form

affinity isolated antibody

antibody product type

primary antibodies

clone

polyclonal

product line

Prestige Antibodies® Powered by Atlas Antibodies

form

buffered aqueous glycerol solution

species reactivity

human

technique(s)

immunohistochemistry: 1:200- 1:500

immunogen sequence

RVTARRHKPITISKRLLRERTVFYTSSLDESEDEIQHQTPNGTITSSIEPPKPPQHPKLPIQRSGETDPGRKSPSRPILDGKLEPCPEVDVGKLVSRLQDGGTKITPK

UniProt accession no.

shipped in

wet ice

storage temp.

−20°C

target post-translational modification

unmodified

Gene Information

human ... OPHN1(4983)

Immunogen

Oligophrenin 1 recombinant protein epitope signature tag (PrEST)

Application

All Prestige Antibodies Powered by Atlas Antibodies are developed and validated by the Human Protein Atlas (HPA) project and as a result, are supported by the most extensive characterization in the industry.

The Human Protein Atlas project can be subdivided into three efforts: Human Tissue Atlas, Cancer Atlas, and Human Cell Atlas. The antibodies that have been generated in support of the Tissue and Cancer Atlas projects have been tested by immunohistochemistry against hundreds of normal and disease tissues and through the recent efforts of the Human Cell Atlas project, many have been characterized by immunofluorescence to map the human proteome not only at the tissue level but now at the subcellular level. These images and the collection of this vast data set can be viewed on the Human Protein Atlas (HPA) site by clicking on the Image Gallery link. We also provide Prestige Antibodies® protocols and other useful information.

Biochem/physiol Actions

Oligophrenin-1 is a protein encoded by the OPHN1 gene in humans and is located on chromosome X. The gene belongs to GRAF subfamily characterized by an N-terminal BAR domain, followed by a pleckstrin-homology (PH) domain and the GAP domain. It encodes for a Rho-GTPase-activating protein, important for dendritic morphogenesis and synaptic function. The gene takes part in Rho GTPase-dependent signaling pathways involved in X-linked intellectual disability (XLID). It is essential for the regulation of the G-protein cycle. Mutation in this gene causes X-linked intellectual disability associated with cerebellar hypoplasia, distinctive facial appearance and is also responsible for non-specific X-linked mental retardation (NSMR).

Features and Benefits

Prestige Antibodies® are highly characterized and extensively validated antibodies with the added benefit of all available characterization data for each target being accessible via the Human Protein Atlas portal linked just below the product name at the top of this page. The uniqueness and low cross-reactivity of the Prestige Antibodies® to other proteins are due to a thorough selection of antigen regions, affinity purification, and stringent selection. Prestige antigen controls are available for every corresponding Prestige Antibody and can be found in the linkage section.

Every Prestige Antibody is tested in the following ways:
  • IHC tissue array of 44 normal human tissues and 20 of the most common cancer type tissues.
  • Protein array of 364 human recombinant protein fragments.

Physical form

Solution in phosphate-buffered saline, pH 7.2, containing 40% glycerol and 0.02% sodium azide

Other Notes

Corresponding Antigen APREST74344

Legal Information

Prestige Antibodies is a registered trademark of Merck KGaA, Darmstadt, Germany

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biological source

rabbit

biological source

rabbit

biological source

rabbit

biological source

rabbit

conjugate

unconjugated

conjugate

unconjugated

conjugate

unconjugated

conjugate

unconjugated

Quality Level

100

Quality Level

100

Quality Level

100

Quality Level

100

antibody form

affinity isolated antibody

antibody form

affinity isolated antibody

antibody form

affinity isolated antibody

antibody form

affinity isolated antibody

product line

Prestige Antibodies® Powered by Atlas Antibodies

product line

Prestige Antibodies® Powered by Atlas Antibodies

product line

Prestige Antibodies® Powered by Atlas Antibodies

product line

Prestige Antibodies® Powered by Atlas Antibodies

shipped in

wet ice

shipped in

wet ice

shipped in

wet ice

shipped in

wet ice


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Storage Class

10 - Combustible liquids

wgk

WGK 1

flash_point_f

Not applicable

flash_point_c

Not applicable

ppe

Eyeshields, Gloves, multi-purpose combination respirator cartridge (US)



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Cíntia Barros Santos-Rebouças et al.
European journal of human genetics : EJHG, 22(5), 644-651 (2013-10-10)
Oligophrenin-1 (OPHN1) is one of at least seven genes located on chromosome X that take part in Rho GTPase-dependent signaling pathways involved in X-linked intellectual disability (XLID). Mutations in OPHN1 were primarily described as an exclusive cause of non-syndromic XLID
M Al-Owain et al.
Clinical genetics, 79(4), 363-370 (2010-06-10)
X-linked mental retardation (XLMR) is notably a heterogeneous condition and often poses a diagnostic challenge. The oligophrenin 1 gene (OPHN1) is a protein with a Rho-GTPase-activating domain required in the regulation of the G-protein cycle. Mutations in the OPHN1 cause
Lai-Jun Zhang et al.
Yi chuan = Hereditas, 30(10), 1307-1311 (2008-10-22)
The OPHN1 gene encodes a Rho-GTPase activating protein (RhoGAP), and mutations in OPHN1 are responsible for non-specific X-linked mental retardation (NSMR). A SNP located in the 5'-untranslated region (UTRs) of OPHN1 (rs492933) was examined by PCR-RFLP to assess its contribution



Global Trade Item Number

SKUGTIN
HPA002919-100UL04061835668168
HPA002919-25UL04061842812165

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