OFD1 Rabbit Polyclonal Antibody

CAT#: TA308968

Rabbit polyclonal antibody to OFD1 (oral-facial-digital syndrome 1)


USD 415.00

In Stock*

Size
    • 100 ul

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Specifications

Product Data
Applications IHC, WB
Recommended Dilution WB:1:1000-1:10000
Reactivities Human
Host Rabbit
Isotype IgG
Clonality Polyclonal
Immunogen Recombinant fragment corresponding to a region within amino acids 136 and 417 of OFD1 (Uniprot ID#O75665)
Formulation 0.1M Tris, 0.1M Glycine, 10% Glycerol (pH7). 0.01% Thimerosal 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.
Predicted Protein Size 117 kDa
Gene Name OFD1, centriole and centriolar satellite protein
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 Families Druggable Genome

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