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76524 Cln6

76524

Cln6

ceroid-lipofuscinosis, neuronal 6

protein-coding

Mus musculus

基因描述

Type Description
Definition ceroid-lipofuscinosis, neuronal 6

研究结论

Date Results Publications
2021-02-06 13:55:00 A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer. 32597833
2019-06-01 13:17:00 Bipolar cell-specific expression of CLN6 slowed significantly the loss of photoreceptor function and photoreceptor cells. This study shows that the deficiency of a gene normally expressed in bipolar cells can cause the loss of photoreceptors and that this can be prevented by bipolar cell-directed treatment. 29606505
2014-08-30 12:34:00 Data indicate that ceroid-lipofuscinosis, neuronal 6 protein Cln6(nclf) mutation leads to deficits in motor coordination, vision, memory, and learning. 24223841
2012-07-21 11:05:00 These findings implicate Cln6 in the survival and maturation of specific neuronal populations during development and make it possible to compare regional Cln6 expression with the distribution of subsequent pathology. 22012656
2010-03-01 11:04:00 Data show a progressive breakdown of axons and synapses in the brains of two different models of NCL: Ppt1(-/-) model of infantile NCL and Cln6(nclf) model of variant late-infantile NCL. 19640925

名称对应

Type IDs
Synonymous 1810065L06Rik, AW743417, D9Bwg1455e, nclf
Gene
UniProtKB-ID: Q3U466_MOUSE
UniprotKB: Q3U466
UniParc: UPI00001C4443
EMBL: AC164614, AK154414
Ensembl: ENSMUSG00000032245
KO: mmu:76524
Nucleutide sequences
EMBL-CDS: BAE32568.1
Ensembl_TRS: ENSMUST00000034776
Protein sequencees
Ensembl_PRO: ENSMUSP00000034776
RefSeq: NP_001028347.1
Others
UniRef100: UniRef100_Q3U466
UniRef90: UniRef90_Q3U466
UniRef50: UniRef50_Q3U466
UniGene: Mm.283636

全选

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研究热度

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