C12orf40
Reactivity: Human
Host: Rabbit
Polyclonal
Alexa Fluor 750
Application Notes
IHC 1:40-1:200, ELISA 1:5000-1:10000
Restrictions
For Research Use only
Format
Liquid
Concentration
1 mg/mL
Buffer
PBS with 0.05 % Sodium azide and 40 % Glycerol, pH 7.4
Preservative
Sodium azide
Precaution of Use
This product contains Sodium azide: a POISONOUS AND HAZARDOUS SUBSTANCE which should be handled by trained staff only.
Storage
-20 °C
Storage Comment
Store at -20°C. Avoid freeze / thaw cycles.
Target
C12orf40
(Chromosome 12 Open Reading Frame 40 (C12orf40))
Alternative Name
C12orf40
Background
Encoding over 1,100 genes within 132 million bases, chromosome 12 makes up about 4.5 % of the human genome. A number of skeletal deformities are linked to chromosome 12 including hypochondrogenesis, achondrogenesis and Kniest dysplasia. Noonan syndrome, which includes heart and facial developmental defects among the primary symptoms, is caused by a mutant form of PTPN11 gene product, SH-PTP2. Chromosome 12 is also home to a homeobox gene cluster which encodes crucial transcription factors for morphogenesis, and the natural killer complex gene cluster encoding C-type lectin proteins which mediate the NK cell response to MHC I interaction. Trisomy 12p leads to facial development defects, seizure disorders and a host of other symptoms varying in severity depending on the extent of mosaicism and is most severe in cases of complete trisomy. The C12orf40 gene product has been provisionally designated C12orf40 pending further characterization.