| Modification Notes |
TMEM16F (transmembrane protein 16F), also known as ANO6 (anoctamin 6), is a 910 amino acid multi-pass membrane protein that is expressed in retinal tissue, embryonic stem cells and fetal liver, as well as in intestinal cancer and chronic myologenous leukemia. Due to its expression in cancerous tissues, TMEM16F may be involved in tumorigenesis. The gene encoding TMEM16F maps to chromosome 12. 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 is characterized by heart and facial developmental defects, is caused by a mutant form of the 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. |