PAX2 Gene
paired box 2
ALIAS SYMBOLS
None
Your Results
Sign InDescription
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 eyes, ears, brain and spinal cord (central nervous system), kidneys, urinary tract, and genital tract. After birth, the PAX2 protein is thought to protect against cell death during periods of cellular stress.
CHROMOSOME
10
LOCATION
q24.31
LOCUS TYPE
gene with protein product
VARIANTS
198
External Links
HGNC
Ensembl
NCBI
OMIM