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4935 GPR143

4935

GPR143

G protein-coupled receptor 143

protein-coding

Homo sapiens

基因描述

Type Description
Definition G protein-coupled receptor 143

研究结论

Date Results Publications
2020-06-06 13:16:00 The mutation c.360+5G>T in the GPR143 gene was identified in this family. In conclusion, the present study identified the splicing mutation c.360+5G>T in the GPR143 gene in a Chinese family with Ocular albinism type 1 and successfully identified the site. 31746431
2020-02-22 12:52:00 Pathogenic variants in the GPR143 gene may disturb the normal melanogenesis in the pigmented tissues of the eye, result in macular hypoplasia, and alter the thickness of the iris. 31574285
2020-02-08 11:37:00 reduced signaling of GPR143 may be a potential contributor to age-related macular degenerationpathogenesis [review] 31884582
2019-05-25 12:06:00 GPR143 deletion is associated with Ocular albinism with infertility and late-onset sensorineural hearing loss. 30160833
2019-02-23 11:41:00 These studies corroborate RPE melanin as the major source of NIR-AF but also indicate that bisretinoid lipofuscin, when present at sufficient concentrations, contributes to the NIR-AF signal. Ocular melanin attenuates the SW-AF signal. 29847651

名称对应

Type IDs
Synonymous NYS6, OA1
Gene
UniProtKB-ID: GP143_HUMAN
UniprotKB: P51810
UniParc: UPI0000130B4E
EMBL: AC003036, Z48804, BC068977, CH471074, AC090481
Ensembl: ENSG00000101850
KO: hsa:4935
Nucleutide sequences
EMBL-CDS: CAA88742.1, EAW98773.1, AAH68977.1
Ensembl_TRS: ENST00000467482
Protein sequencees
Ensembl_PRO: ENSP00000417161
RefSeq: XP_024308156.1, XP_024308155.1, NP_000264.2, XP_005274598.1
Others
UniRef100: UniRef100_P51810
UniRef90: UniRef90_P51810
UniRef50: UniRef50_P51810
UniGene: Hs.74124
CCDS: CCDS14134.2

全选

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研究热度

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