[Research progress on nonsyndromic X-linked mental retardation related gene PAK3].
Mutations of the gene coding for PAK3 (p21-activated kinase 3) are associated with nonsyndromic X-linked mental retardation (MRX). It may be associated with generalized or specific cognitive ability. Studying the biological and cognitive function of PAK3 is important for MR diagnosis and prevention. This paper reviews the progress on PAK3 including its gene product, biological and cognitive function. The future directions on the study of PAK3 are also discussed.
Gao
Xiao-Cai
XC
College of Life Science, Shaanxi Normal University, Xi'an 710062, China. gaoxc@nwu.edu.cn
Xi
Geng-Si
GS
Zhang
Fu-Chang
FC
D000818:Animals; D003071:Cognition; D005786:Gene Expression Regulation; D006801:Humans; D038901:X-Linked Intellectual Disability / Q000235:genetics* / Q000378:metabolism; D015398:Signal Transduction; D054462:p21-Activated Kinases / Q000235:genetics* / Q000378:metabolism; D020741:rho GTP-Binding Proteins / Q000378:metabolism
D054462:p21-Activated Kinases; D020741:rho GTP-Binding Proteins