闈舵爣锛欬p style="text-indent: 2em;">C12orf29

浜у搧鍒悕锛欬p style="text-indent: 2em;">C12orf29锛 chromosome 12 open reading frame 29锛 chromosome 12 open reading frame 29锛 uncharacterized protein C12orf29锛 12鍙锋煋鑹蹭綋寮€鏀鹃槄璇绘29锛

鑳屾櫙淇℃伅锛欬div style="text-indent: 2em;">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.