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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signalword
Warning
hcodes
Hazard Classifications
Aquatic Chronic 3 - Skin Sens. 1
存储类别
10 - Combustible liquids
wgk
WGK 2
flash_point_f
Not applicable
flash_point_c
Not applicable
法规信息
常规特殊物品
此项目有
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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