Anti-C12orf40 antibody

Anti-C12orf40 antibody

Cat. No.    JK124306       
Package    25 μl/100 μl/200 μl
Storage    -20°C, pH7.4 PBS, 0.05% NaN3, 40% Glycerol

Product overview
Description                   Anti-C12orf40 rabbit polyclonal antibody
Applications        ELISA, IHC 
Immunogen               Fusion protein of human C12orf40
Reactivity                 Human
Content                     0.6 mg/ml
Host species               Rabbit
Ig class                  Immunogen-specific rabbit IgG
Purification                 Antigen affinity purification


Target information
Symbol                 C12orf40
Full name                 chromosome 12 open reading frame 40
Synonyms    HEL-206; HEL-S-94
Swissprot    Q86WS4

Target 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.