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 FAM101A gene product has been provisionally designated FAM101A pending further characterization.
Similarity:
Belongs to the FAM101 family.
SWISS:
Q6ZTI6
Gene ID:
144347
Database links:
Entrez Gene: 144347 Human
Entrez Gene: 73121 Mouse
Entrez Gene: 689711 Rat
SwissProt: Q6ZTI6 Human
SwissProt: Q7TS73 Mouse
Unigene: 432901 Human
Unigene: 296138 Mouse
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