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211286 Cln5

211286

Cln5

ceroid-lipofuscinosis, neuronal 5

protein-coding

Mus musculus

基因描述

Type Description
Definition ceroid-lipofuscinosis, neuronal 5

研究结论

Date Results Publications
2020-05-16 10:14:00 Results show that loss of CLN5 triggers alterations in development and defects in embryonic interneurons. This may occur through increased binding of REST to Gad1. The study presents evidence that CLN5 functions as a critical modulator of key parameters required for proper neuronal development and maturation, and that the neurodegenerative processes of CLN5 disease pathophysiology have a neurodevelopmental component. 31294445
2019-02-16 11:04:00 Quantification revealed that the amounts of 12 different soluble lysosomal proteins were significantly reduced in Cln7 ko MEFs compared with wild-type controls. One of the most significantly depleted lysosomal proteins was Cln5 protein that underlies another distinct neuronal ceroid lipofuscinosis disorder 29514215
2018-05-19 10:03:00 neurogenesis is increased in Cln5-deficient mice, which model the childhood neurodegenerative disorder caused by loss of Cln5. 28733362
2015-02-07 11:47:00 Rssults suggested that CLN2, CLN3 and CLN5 genes may play an important role in early embryonal neurogenesis. 25303899
2013-09-14 11:37:00 The simultaneous loss of both Cln1 and Cln5 genes might enhance the typical pathological phenotypes of these mice by disrupting or downregulating shared or convergent pathogenic pathways. 23065637

名称对应

Type IDs
Synonymous A730075N08Rik
Gene
UniProtKB-ID: CLN5_MOUSE, B2RUP8_MOUSE
UniprotKB: Q3UMW8, B2RUP8
UniParc: UPI00001C5624
EMBL: AK144635, AK032293, BC141314, BC025487, BC141315
Ensembl: ENSMUSG00000022125
KO: mmu:211286
Nucleutide sequences
EMBL-CDS: BAC27797.1, AAH25487.1, BAE25980.1, AAI41315.1, AAI41316.1
Ensembl_TRS: ENSMUST00000022721
Protein sequencees
Ensembl_PRO: ENSMUSP00000022721
RefSeq: NP_001028414.1
Others
UniRef100: UniRef100_Q3UMW8
UniRef90: UniRef90_Q3UMW8
UniRef50: UniRef50_O75503
UniGene: Mm.295289
CCDS: CCDS27314.1

全选

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研究热度

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