OFD1 Rabbit Polyclonal Antibody

SKU
TA308968
Rabbit polyclonal antibody to OFD1 (oral-facial-digital syndrome 1)
  $665.00
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Specifications
Specifications
Product Data
Application IHC, WB
Recommended Dilution WB:1:1000-1:10000
Reactivity Human
Antibody Host Rabbit
Isotype IgG
Clonality Polyclonal
Immunogen Recombinant fragment corresponding to a region within amino acids 136 and 417 of OFD1 (Uniprot ID#O75665)
Buffer 1XPBS, 20% Glycerol (pH7). 0.025% ProClin 300 was added as a preservative.
Concentration lot specific
Purification Purified by antigen-affinity chromatography.
Conjugation Unconjugated
Storage Store at -20°C as received.
Stability Stable for 12 months from date of receipt.
Shipping Blue Ice
Predicted Protein Size 117 kDa
Gene Name OFD1, centriole and centriolar satellite protein
Database Link
Background 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
Synonyms 71-7A; CXorf5; JBTS10; RP23; SGBS2
Reference Data
Protein Categories Intracellular Proteins, Nervous system Diseases
Protein Families Druggable Genome
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Documents
Resources

file-alt Citations

Abnormal glycosylation in Joubert syndrome type 10
Kane, Davids, Bond et al
Cilia (2017) 6, 2 DOI: 10.1186/s13630-017-0048-6
Snippet: cycles. OFD1 cloning. Wild-type (WT) cDNA expression constructs were made by PCR amplification of the OFD1 cDNA sequence from a sequence-verified TrueORF Gold clone (RC220154, Origene, Rockville, Maryland). The ... All 4 versions Cite SaveSaving
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Showing 1-1 of 1 papers.
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