DNAJC12基因与疾病关系的研究进展  

Advance in Research on the Association between DNAJC12 Gene and Diseases

作　　者：王淑楠 沈明[2] 张知新[2] Wang Shu-nan;Shen Ming;Zhang Zhi-xin(Department of Neonatal Disease Screening,Beijing Obstetrics and Gynecology Hospital/Beijing Maternal and Child Health Hospital Affiliated to Capital Medical University,Beijing 100026,China;International Department of China-Japan Friendship Hospital,Beijing 100029,China)

机构地区：[1]首都医科大学附属北京妇产医院/北京妇幼保健院新生儿疾病筛查科,北京100026 [2]中日友好医院国际部,北京100029

出　　处：《罕少疾病杂志》2024年第12期158-160,共3页Journal of Rare and Uncommon Diseases

基　　金：北京市自然科学基金面上项目(7212088);国家自然科学基金面上项目(82070915)。

摘　　要：DNAJC12基因编码DNAJC12蛋白,后者为热休克蛋白40(DnaJ heat shock protein family,HSP40)家族成员,该家族功能是帮助热休克蛋白70(heat shock protein 70,HSP70)维持蛋白质稳态。DNAJC12双等位基因突变可导致患者出现血苯丙氨酸浓度升高、智力障碍、帕金森、肌张力异常及精神行为异常等临床表现;DNAJC12基因的表达异常与肿瘤、抑郁症等疾病的发生和进展有关。本文就DNAJC12双等位基因突变及表达异常与疾病关系的最新研究进展进行综述。DNAJC12 gene encodes DNAJC12 protein.DNAJC12 protein is a member of the heat shock protein(HSP)40 family,which helps HSP70 maintain protein homeostasis.Biallelic mutations in DNAJC12 can lead to hyperphenylalaninemia,which is mainly manifested as increased blood phenylalanine concentration,mental retardation,Parkinson's disease,dystonia,attention deficit hyperactivity disorder,autism spectrum disorder,etc.Abnormal expression of DNAJC12 is associated with tumor and depression.This article reviews the relationship between DNAJC12 and disease.

关 键 词：DNAJC12 疾病 高苯丙氨酸血症 帕金森 肿瘤 抑郁症 进展 

分 类 号：R589.3[医药卫生—内分泌]