oral-facial-digital syndrome 1 antibody

Catalog Number:

23085

Amount:

100μg

Price:

$319

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/Stability:

Immunogen:

Recombinant protein fragment contain a sequence corresponding to a region within amino acids 136 and 387 of Human OFD1

Purification:

Purified by antigen-affinity chromatography.

Specificity/Sensitivity:

Applications:

WB

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]

References:

appl_detail:

Predicted MW: 117kd
Western blotting: 1:500-1:3000

Datasheet PDF