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100503085 Klhl3

100503085

Klhl3

kelch-like 3

protein-coding

Mus musculus

基因描述

Type Description
Definition kelch-like 3

研究结论

Date Results Publications
2019-09-21 12:27:00 Klhl3(M131V/+) KI mice feature typical pseudohypoaldosteronism II with a simultaneous increase of WNK1 and WNK4 through the impaired KLHL3 BTB domain binding to Cul3 30148674
2019-09-07 11:43:00 deletion of exon 9 from Cul3 generates a protein that is itself ubiquitin-ligase defective but also capable of enhanced autophagocytic KLHL3 degradation 29897280
2019-03-09 12:46:00 decreased abundance of KLHL3 is a specific phenomenon caused by mutant CUL3 (Deltaexon9). 29869755
2017-09-16 12:01:00 However, phosphorylation of and NCC at distal convoluted tubules were almost completely absent even in WNK4(-/-)KLHL3(R528H/R528H) mice. In conclusion, increased WNK1 was unable to compensate for WNK4 deficiency and phosphorylate the NCC, indicating that WNK4 is indispensable for the onset of PHAII. 28743496
2017-07-01 10:16:00 the heterozygous deletion of KLHL3 was not sufficient to cause PHAII, indicating that autosomal dominant type pseudohypoaldosteronism type II (PHAII) is caused by the dominant negative effect of mutant KLHL3. 28052936

名称对应

Type IDs
Synonymous 7530408C15Rik, AI430941, EG627648
Gene
Nucleutide sequences
Protein sequencees
RefSeq: XP_006517074.1, NP_001355796.1, XP_006517076.1, XP_006517073.1, NP_001355797.1, NP_001349344.2
Others
UniGene: Mm.379256, Mm.491612

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