Home Antibody All anti-OFD1 antibodies
Also for OFD1 (NM_003611)
|Recombinant protein fragment contain a sequence corresponding to a region within amino acids 136 and 387 of Human OFD1|
|0.1M Tris, 0.1M Glycine, 10% Glycerol (pH7). 0.01% Thimerosal was added as a preservative.|
|Purified by antigen-affinity chromatography.
|Homo sapiens oral-facial-digital syndrome 1 (OFD1)|
|71-7A; CXorf5; JBTS10; RP23; SGBS2|
|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]|
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Sample (30 ug of whole cell lysate) A: Molt-4 (anti-OFD1 antibody diluted at 1:5000)