Target Protein: C12ORF24
Immunogen Range: 195-245/273
Entrez Gene: 29902
Swiss Prot: Q8WUB2
Source: KLH conjugated synthetic peptide derived from human C12ORF24
Purification: Purified by Protein A.
Storage Buffer: Aqueous buffered solution containing 1% BSA, 50% glycerol and 0.09% sodium azide.
Storage Condition: Store at -20°C for 12 months..
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 C12orf24 gene product has been provisionally designated C12orf24 pending further characterization.
Cross Reactive Species:
For research use only. Not intended for diagnostic or therapeutic use.