Background: IFLTD1 (intermediate filament tail domain-containing protein 1), also known as PAS1C1, is a 388 amino acid protein that belongs to the intermediate filament family. Existing as five alternatively spliced isoforms, the gene encoding IFLTD1 maps to human chromosome 12p12.1 and mouse chromosome 6 G3. 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 which vary in severity depending on the extent of mosaicism. It is most severe in cases of complete trisomy.
Description: Rabbit polyclonal to PAS1C1
Immunogen: KLH conjugated synthetic peptide derived from PAS1C1
Specificity: ·Reacts with Human, Mouse and Rat.
·Isotype: IgG
Application: ·Western blotting: 1/100-500. Predicted Mol wt: 43 kDa;
·Immunohistochemistry (Paraffin/frozen tissue section): 1/100-500;
·Immunocytochemistry/Immunofluorescence: 1/100;
·Immunoprecipitation: 1/50;
·ELISA: 1/500;
·Optimal working dilutions must be determined by the end user.
