| Source: | Rabbit | Gene Id: | 90488 |
| Isotype: | IgG | Swiss Prot: | |
| purity: | Purified by Protein A. |
| 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. |
| Reactivity | Human, Mouse, Rat |
| Tested applications | IHC IF |
| Clonality | Polyclonal Antibody |
| Calculated MW | / |
| Recommended Dilutions |
IHC 1:100-1:500
IF 1:50-1:200
|
| Immunogen | KLH conjugated synthetic peptide derived from human C12orf23 |
| Storage | Aqueous buffered solution containing 100ug/ml BSA, 50% glycerol and 0.09% sodium azide. Store at -20℃ for 12 months |
| Synonym | C12orf23, Chromosome 12 open reading frame 23, CL023_HUMAN, MGC17943, UPF0444 transmembrane protein C12orf23. |
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