摘要
PAK3基因突变会导致非特异性精神发育迟滞,因而与人类一般和特殊认知能力密切相关。研究该基因的生物学功能和认知功能将为临床诊断和防治由此引起的精神发育迟滞患者提供参考。文章综述了对PAK3基因产物、基因的生物学与认知功能的研究现状,并对今后的进一步研究工作进行了展望。
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.
出处
《遗传》
CAS
CSCD
北大核心
2007年第5期523-527,共5页
Hereditas（Beijing)
基金
国家自然科学基金(编号:30470577)
陕西省自然科学基金(编号:2005C115)资助~~
