C12orf29 antibody, 4930571E09Rik antibody, A730088G13Rik antibody, AW551239 antibody, C430008C19Rik antibody, chromosome 12 open reading frame 29 antibody, chromosome 5 open reading frame, human C12orf29 antibody, chromosome 3 open reading frame, human C12orf29 antibody, RIKEN cDNA 4930430F08 gene antibody, C12orf29 antibody, C5H12orf29 antibody, C3H12orf29 antibody, 4930430F08Rik antibody
背景
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 C12orf29 gene product has been provisionally designated C12orf29 pending further characterization.