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406281 cluap1

406281

cluap1

clusterin associated protein 1

protein-coding

Danio rerio

基因描述

Type Description
Definition clusterin associated protein 1

研究结论

Date Results Publications
2017-09-16 13:07:00 Consistent with the knowledge that CLUAP1 plays an important role in cilia function and that cilia are critical to photoreceptor function, our results indicate that hypomorphic mutations in CLUAP1 can result in dysfunctional photoreceptors without systemic abnormalities. This is the first report linking mutations in CLUAP1 to human disease and establishes CLUAP1 as a candidate Leber congenital amaurosis gene 26820066
2014-09-27 10:13:00 We identified a novel mutation in cluap1 and determined that photoreceptor maintenance is dependent on cluap1. 24970261

名称对应

Type IDs
Synonymous fj16b11, unm_au5, wu:fj16b11, zgc:56115
Gene
UniProtKB-ID: CLUA1_DANRE
UniprotKB: Q7ZVC2
UniParc: UPI0000D7E642
EMBL: BC045921, BC067601, BC097072
KO: dre:406281
Nucleutide sequences
EMBL-CDS: AAH45921.1, AAH97072.1, AAH67601.1
Gene_ORFName: zgc:56115
Protein sequencees
RefSeq: XP_021325795.1, XP_021325796.1, XP_021325797.1, NP_998173.1
Others
UniRef100: UniRef100_Q7ZVC2
UniRef90: UniRef90_Q7ZVC2
UniRef50: UniRef50_Q7ZVC2
UniGene: Dr.80808

全选

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