Application:IF
Reactivity: Mouse,Rat (predicted: Human,Pig,Horse)
KIAA2022 is a 1,516 amino acid protein that is highly expressed in both adult and fetal brain and is encoded by a gene which maps to human chromosome X. Chromosomal aberrations involving the KIAA2022 gene are associate with the development of severe mental retardation, suggesting a role for KIAA2022 in normal brain development and function. Human chromosome X, on which the KIAA2022 gene is localized, contains nearly 153 million base pairs and houses over 1,000 genes. In conjunction with chromosome Y, chromosome X is responsible for sex determination. There are a number of conditions related to an abnormal number and combination of sex chromosomes, some of which include Turner's syndrome, color blindness, hemophilia and Duchenne muscular dystrophy.