Application:WB
Reactivity: Human (predicted: Mouse,Rat,Rabbit,Sheep,Cow,Chicken,Dog)
KIAA1467 is a 622 amino acid single-pass membrane protein that belongs to the ITFG3 family. KIAA1467 is post-translationally phosphorylated at multiple serine residues and tyrosine 22. The gene encoding KIAA1467 maps to human chromosome 12, which encodes over 1,100 genes and comprises 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 which vary in severity depending on the extent of mosaicism. It is most severe in cases of complete trisomy.