background:
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 SLCtype 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 C12orf53 gene product has been provisionally designated C12orf53 pending further characterization.
Function:
Acts as a ligand for PILRA in neural tissues, where it may be involved in immune regulation.
Subcellular Location:
Membrane; single pass type I membrane protein
Tissue Specificity:
Mainly expressed in adult brain and cerebellum. Weaker expression in fetal brain and virtually no expression in spleen, heart, kidney, liver and dorsal ganglion relative to brain.
Post-translational modifications:
O-glycosylation at Thr-140 is essential for recognition by PILRA (By similarity).
Database links:
Entrez Gene: 196500 Human
SwissProt: Q8IYJ0 Human
SwissProt: Q6P1B3 Mouse
SwissProt: Q5U2P6 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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