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402935 chm

402935

chm

CHM Rab escort protein

protein-coding

Danio rerio

基因描述

Type Description
Definition CHM Rab escort protein

研究结论

Date Results Publications
2017-07-15 11:04:00 In Choroideremia(Y42X/y) fibroblasts, there was a recovery of prenylation activity following treatment with either PTC124 (42 +/- 5%) or PTC-414 (36 +/- 11%), although an increase in REP1 protein was not detected in these cells, in contrast to the zebrafish model. 27329764
2010-01-21 00:00:00 The degenerative phenotype resulting from a null mutation in the zebrafish gene indicates that hair cells and retinal cells require Rab escort protein 1 for survival. 14983050
2010-01-21 00:00:00 The results of this study propose that in chm(-/-) zebrafish, maternally derived rep allows initial successful development of the embryo, but its gradual loss leads to multisystem disease and invariably to lethality. 19117920

名称对应

Type IDs
Synonymous REP1, eva, evanescence
Gene
UniProtKB-ID: Q6RFG0_DANRE
UniprotKB: Q6RFG0
UniParc: UPI0000232FD9
EMBL: AY500891
KO: dre:402935
Nucleutide sequences
EMBL-CDS: AAR88081.1
Protein sequencees
RefSeq: NP_982286.1
Others
UniRef100: UniRef100_Q6RFG0
UniRef90: UniRef90_F1Q9R8
UniRef50: UniRef50_F1Q9R8
UniGene: Dr.133306

全选

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研究热度

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