Product Datasheet
oral-facial-digital syndrome 1 antibody
Catalog Number: 23085
Technical:tech@swbio.com
Information:info@swbio.com
Description
- Swiss-Prot No.:
- Swiss-Prot:O75665
Gene ID:8481
- Form of Antibody:
- Supplied in 0.1M Tris-buffered saline with 10% Glycerol (pH7.0). 0.01% Thimerosal was added as a preservative.
- Storage:
- Store at -20˚C for long term preservation (recommended). Store at 4˚C for short term use.
- Immunogen:
- Recombinant protein fragment contain a sequence corresponding to a region within amino acids 136 and 387 of Human OFD1
- appl_detail:
- Predicted MW: 117kd
Western blotting: 1:500-1:3000
- Purification:
- Purified by antigen-affinity chromatography.
- 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]
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