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5956 OPN1LW

5956

OPN1LW

opsin 1, long wave sensitive

protein-coding

Homo sapiens

基因描述

Type Description
Definition opsin 1, long wave sensitive

研究结论

Date Results Publications
2019-12-14 11:41:00 These results suggest that O-glycosylation is a fundamental feature of red and green cone opsins, which may be relevant to their function or to cone cell development, and that differences in this post-translational modification also could contribute to the different morphologies of rod and cone photoreceptors. 30948514
2019-08-31 11:29:00 Differential stability of variant OPN1LW gene transcripts in myopic Australian islander patients has been reported. 30996587
2019-04-20 12:20:00 Molecular genetic analysis of the OPN1LW/OPN1MW gene cluster revealed a novel deletion of about 73 kb in the patient encompassing the LCR. 29940872
2018-11-17 12:24:00 OPN1LW and OPN1MW restore M-cone function in a mouse model of human blue cone monochromacy. 29386880
2018-04-28 11:57:00 Investigated 24 affected males with blue cone monochromacy from 16 families with either a structurally intact gene cluster or at least one intact single (hybrid) gene but harbouring rare combinations of common SNPs in exon 3 in single or multiple OPN1LW and OPN1MW gene copies. We could establish intrachromosomal gene conversion in the male germline as underlying mechanism. 27339364

名称对应

Type IDs
Synonymous CBBM, CBP, COD5, RCP, ROP
Gene
Nucleutide sequences
Protein sequencees
RefSeq: NP_064445.2
Others
UniGene: Hs.592247

全选

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