Description
Product Characteristics:
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 FAM62A gene product has been provisionally designated FAM62A pending further characterization.
Subcellular location: Cell membrane
Synonyms: Chr2 synaptotagmin, CHR2SYT, E Syt2, ESYT 2, ESYT2, Extended synaptotagmin 2, Extended synaptotagmin like protein 2, FAM 62B antibody Family with sequence similarity 62 C2 domain containing member B, Family with sequence similarity 62 member B, KIAA1228, Protein FAM62B, ESYT2_HUMAN.
Target Information: May play a role as calcium-regulated intrinsic membrane protein