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208869 Dock3

208869

Dock3

dedicator of cyto-kinesis 3

protein-coding

Mus musculus

基因描述

Type Description
Definition dedicator of cyto-kinesis 3

研究结论

Date Results Publications
2018-05-19 10:55:00 Common features in both affected individuals include severe developmental disability, ataxic gait, and severe hypotonia, which recapitulates the Dock3 knockout mouse phenotype. We show that complete DOCK3 deficiency in humans leads to developmental disability with significant hypotonia and gait ataxia, probably due to abnormal axonal development 28195318
2015-09-12 11:08:00 Dock3 may be a therapeutic target for demyelinating disorders including optic neuritis. 25165881
2015-06-20 11:27:00 Overexpression of Dock3 and pharmacological interruption of p38 have synergistic effects for both neuroprotection and axon regeneration, thus combined application may be beneficial for the treatment of ONI. 25172145
2014-08-23 10:53:00 Skeletal muscle-specific miR-486 overexpression in Dmdmdx-5Cv animals decreased levels of DOCK3, reduced PTEN expression, and subsequently increased levels of phosphorylated AKT, which resulted in an overall beneficial effect. 24789910
2014-04-05 13:30:00 These results suggest that Dock3 overexpression prevents glaucomatous retinal degeneration by suppressing both NR2B-mediated glutamate neurotoxicity and oxidative stress. 23852370

名称对应

Type IDs
Synonymous MOCA, PBP, mKIAA0299
Gene
UniProtKB-ID: F8VPQ1_MOUSE, Q3UHH9_MOUSE
UniprotKB: F8VPQ1, Q3UHH9
UniParc: UPI00001F7E24, UPI00005AC646
EMBL: AC147636, AK147385, AL672070, AC121608, AC123065, AL672208
Ensembl: ENSMUSG00000039716
KO: mmu:208869
Nucleutide sequences
EMBL-CDS: BAE27878.1
Ensembl_TRS: ENSMUST00000044532
Protein sequencees
Ensembl_PRO: ENSMUSP00000047652
RefSeq: XP_011241175.1, XP_011241173.1, XP_006511754.1, XP_030100037.1, XP_017168749.1, NP_700462.2, XP_011241174.1, XP_011241171.1, XP_011241177.1, XP_030100038.1, XP_036010664.1, XP_011241172.1
Others
UniRef100: UniRef100_F8VPQ1, UniRef100_Q3UHH9
UniRef90: UniRef90_Q8IZD9, UniRef90_Q3UHH9
UniRef50: UniRef50_A0A3Q1M3N9, UniRef50_Q8IZD9
UniGene: Mm.150259

全选

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