background:
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.
Tissue Specificity:
Highly expressed in fetal and adult brain, predominantly in the cerebral cortex and the cerebellum. Also expressed in other tissues but to a lesser extent.
DISEASE:
Note=A chromosomal aberration involving KIAA2022 is found in 2 patients with severe mental retardation (MR). Pericentric inversion inv(X)(p22.3;q13.2). The Xq13 breakpoint lies within a predicted intron of KIAA2022 gene. KIAA2022 protein is no longer expressed in these patients lymphocytes.
Database links:
Entrez Gene: 340533 Human
Omim: 300524 Human
SwissProt: Q5QGS0 Human
Unigene: 124128 Human
Entrez Gene: 100173017 Orangutan
Entrez Gene: 100155718 Pig
Entrez Gene: 716288 Rhesus monkey
Omim: 607359 Human
SwissProt: Q8N163 Human
SwissProt: Q8VDP4 Mouse
SwissProt: Q5R8S0 Orangutan
Unigene: 433722 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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