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Merck
CN

SAB2702042

Anti-OFD1 antibody produced in rabbit

Synonym(s):

71-7A, CXorf5, JBTS10, SGBS2

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About This Item

NACRES:
NA.41
UNSPSC Code:
12352203
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biological source

rabbit

conjugate

unconjugated

antibody form

purified immunoglobulin

antibody product type

primary antibodies

clone

polyclonal

form

liquid

mol wt

117 kDa

species reactivity

human

concentration

0.96 mg/mL

technique(s)

immunohistochemistry (formalin-fixed, paraffin-embedded sections): suitable
western blot: 1000-10000

UniProt accession no.

shipped in

wet ice

storage temp.

−20°C

target post-translational modification

unmodified

Quality Level

Gene Information

human ... OFD1(8481)

Application

Suggested starting dilutions are as follows: IHC-P: 1:100-1:1000, WB: 1:1000-1:10000. Not yet tested in other applications. Optimal working dilutions should be determined experimentally by the end user.

Biochem/physiol Actions

This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however, unlike the human gene it is not subject to X inactivation. Mutations in this gene are associated with oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2. Many pseudogenes have been identified; a single pseudogene is found on chromosome 5 while as many as fifteen have been found on the Y chromosome. Alternatively spliced transcripts have been described for this gene but the biological validity of these transcripts has not been determined. [provided by RefSeq]

Disclaimer

Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.

Features and Benefits

Evaluate our antibodies with complete peace of mind. If the antibody does not perform in your application, we will issue a full credit or replacement antibody. Learn more.

Immunogen

Recombinant fragment corresponding to a region within amino acids 136 and 417 of OFD1 (Uniprot ID#O75665)

Physical form

0.1M Tris, 0.1M Glycine, 10% Glycerol (pH7). 0.01% Thimerosal was added as a preservative.

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Warning

hcodes

Hazard Classifications

Aquatic Chronic 3 - Skin Sens. 1

Storage Class

10 - Combustible liquids

wgk

WGK 2

flash_point_f

Not applicable

flash_point_c

Not applicable

Regulatory Information

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Michael J Field et al.
Human mutation, 42(7), 835-847 (2021-04-14)
The pioneering discovery research of X-linked intellectual disability (XLID) genes has benefitted thousands of individuals worldwide; however, approximately 30% of XLID families still remain unresolved. We postulated that noncoding variants that affect gene regulation or splicing may account for the

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