Oral-facial-digital syndrome 1 protein is a protein that in humans is encoded by the OFD1 gene. This gene is mapped to Xp22.2. 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.
Formulation
0.5mg/ml if reconstituted with 0.2ml sterile DI water
Host
Rabbit
Immunogen Region
Amino acids KDKSAHSENPLEKYMKIIQQEQDQESADK from the human protein were used as the immunogen for the OFD1 antibody.
Isotype
IgG
Predicted Reactivity
Human, Mouse
Reactivity
Human, Mouse
Recombinant
No
Antigen
OFD1
Uniprot
O75665
Buffer
Lyophilized from 1X PBS with 2% Trehalose and 0.025% sodium azide
Format
Antigen affinity purified
Purification
Affinity purified
Storage
After reconstitution, the OFD1 antibody can be stored for up to one month at 4°C. For long-term, aliquot and store at -20°C. Avoid repeated freezing and thawing.
Applications
FACS, WB
Dilution
Western blot: 0.5-1ug/ml,Flow cytometry: 1-3ug/million cells