菜单 基因医生

该基因编码内质网(er)蛋白中的一个二硫键异构酶(pdi)家族成员,该家族催化蛋白质折叠和硫醇二硫键交换反应。编码的蛋白质具有N-端ER信号序列,两个硫氧还蛋白(Trx)结构域,具有非经典Ser-Lys Gln SER和Ser-Lys Lys Cys基序,分别是两个类Trx样结构域和C-末端ER保留序列。该蛋白在体外缺乏氧化还原酶活性,可能作为伴侣。这个基因的表达似乎仅限于睾丸[由RefSeq提供,2016年12月]
This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has has an N-terminal ER-signal sequence, two thioredoxin (TRX) domains with non-classical Ser-Lys-Gln-Ser and Ser-Lys-Lys-Cys motifs, respectively, two TRX-like domains, and a C-terminal ER-retention sequence. The protein lacks oxidoreductase activity in vitro and probably functions as a chaperone. This gene's expression appears to be limited to the testis. [provided by RefSeq, Dec 2016]

基因名:PDILT
别名:PDIA7
基因ID:204474
Chromosome:
(GRCh37)
16 Start: 20370492 End: 20416064 Strand: 
信号通路:  
PDILT 基因突变与药物