Background information
Advillin is an 819 amino acid protein that localizes to both the cytoplasm and the cytoskeleton and contains one HP domain and six gelsolin-like repeats. Expressed at high levels in colon and small intestine and at lower levels in uterus, thymus, testis and prostate, advillin functions as a calcium-regulated Actin-binding protein that may be involved in the development of neuronal cells, specifically those that form ganglia. The gene encoding advillin maps to human chromosome 12, which encodes over 1,100 genes and comprises approximately 4.5% of the human genome. Chromosome 12 is associated with a variety of diseases and afflictions, including hypochondrogenesis, achondrogenesis, Kniest dysplasia, Noonan syndrome and Trisomy 12p, which causes facial developmental defects and seizure disorders.
