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PAX2
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PAX2On this page:
Reviewed July 2008
What is the official name of the PAX2 gene?The official name of this gene is “paired box 2.” PAX2 is the gene's official symbol. The PAX2 gene is also known by other names, listed below. What is the normal function of the PAX2 gene?The PAX2 gene belongs to a family of genes that plays a critical role in the formation of tissues and organs during embryonic development. The members of the PAX gene family are also important for maintaining the normal function of certain cells after birth. To carry out these roles, the PAX genes provide instructions for making proteins that attach to specific areas of DNA and help control the activity (expression) of particular genes. On the basis of this action, PAX proteins are called transcription factors. During embryonic development, the PAX2 gene provides instructions for producing a protein that is involved in the formation of the eye, ear, brain and spinal cord (central nervous system), kidney, and genital tract. After birth, the PAX2 protein is thought to protect against cell death during periods of cellular stress. Does the PAX2 gene share characteristics with other genes?The PAX2 gene belongs to a family of genes called PAX (paired box gene). A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook. How are changes in the PAX2 gene related to health conditions?
Where is the PAX2 gene located?Cytogenetic Location: 10q24 Molecular Location on chromosome 10: base pairs 102,495,457 to 102,579,687 The PAX2 gene is located on the long (q) arm of chromosome 10 at position 24. More precisely, the PAX2 gene is located from base pair 102,495,457 to base pair 102,579,687 on chromosome 10. See How do geneticists indicate the location of a gene? in the Handbook. Where can I find additional information about PAX2?You and your healthcare professional may find the following resources about PAX2 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the PAX2 gene or gene products?
See How are genetic conditions and genes named? in the Handbook. Where can I find general information about genes?The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful. What glossary definitions help with understanding PAX2?cancer ; cell ; central nervous system ; coloboma ; digestive ; DNA ; embryonic ; gene ; gene expression ; kidney ; lesion ; mucous ; mucous membrane ; mutation ; nervous system ; nucleotide ; ovary ; proliferation ; prostate ; protein ; renal ; sarcoma ; sign ; soft tissue ; stress ; symptom ; syndrome ; tissue ; transcription ; transcription factor ; tumor ; Wilms tumor You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
References (8 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook. |