C12orf23 Polyclonal Antibody, PE Conjugated, Rabbit
Biozol Catalog Number:
BSS-BS-6987R-PE
Supplier Catalog Number:
bs-6987R-PE
Alternative Catalog Number:
BSS-BS-6987R-PE-100
Manufacturer:
Bioss
Host:
Rabbit
Category:
Antikörper
Application:
IF
Conjugation:
PE
Alternative Names:
C12orf23, Chromosome 12 open reading frame 23, CL023_HUMAN, MGC17943, UPF0444 transmembrane protein C12orf23.
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.
