Host: Rabbit

Target Protein: C12orf23

IR: Immunogen Range:68-116/116

Clonality: Polyclonal

Isotype: IgG

Entrez Gene: 90488

Swiss Prot: Q8WUH6

Source: KLH conjugated synthetic peptide derived from human C12orf23:68-116/116 

Purification: affinity purified by Protein A

Storage: 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.

Background: C12orf23 (chromosome 12 open reading frame 23), also known as FLJ11721, FLJ13959 or MGC17943, is a 116 amino acid multi-pass membrane protein belonging to the UPF0444 family. C12orf23 is encoded by a gene located on human chromosome 12, which encodes over 1,100 genes and comprises approximately 4.5% of the human genome. Chromosome 12 is associated with a number of skeletal deformities, 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.