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92840 REEP6

92840

REEP6

receptor accessory protein 6

protein-coding

Homo sapiens

基因描述

Type Description
Definition receptor accessory protein 6

研究结论

Date Results Publications
2020-03-07 12:24:00 This report is not only the first description of a Cameroonian patient with autosomal recessive retinitis pigmentosa (arRP) associated with a REEP6 mutation, but also this particular genetic alteration. Substitution of p.Glu99Lys in REEP6 likely disrupts the interactions between REEP6 and the ER membrane. 31538292
2018-06-23 11:12:00 Depletion of receptor accessory proteins REEP5 and REEP6 causes a decrease in CXC Chemokine Receptor 1 (CXCR1) signaling. 27966653
2017-05-27 11:12:00 study implicates REEP6 in retinal homeostasis and highlights a pathway previously uncharacterized in retinal dystrophy 27889058
2010-09-15 22:05:00 Observational study of gene-disease association. (HuGE Navigator) 19913121
2010-09-15 22:05:00 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) 20628086

名称对应

Type IDs
Synonymous C19orf32, DP1L1, REEP6.1, REEP6.2, RP77, TB2L1, Yip2f
Gene
UniProtKB-ID: REEP6_HUMAN, A0A1L5BXV2_HUMAN
UniprotKB: Q96HR9, A0A1L5BXV2
UniParc: UPI0000202F38, UPI00000702E3
EMBL: BC008201, AK058112, AC027307, KX268612, AY562244, CH471139, KX268613, AK315744
Ensembl: ENSG00000115255
KO: hsa:92840
Nucleutide sequences
EMBL-CDS: BAG38098.1, EAW69493.1, EAW69492.1, AAH08201.1, APL98237.1, BAB71670.1, AAT70689.1, EAW69491.1, APL98238.1
Ensembl_TRS: ENST00000233596, ENST00000395479
Protein sequencees
Ensembl_PRO: ENSP00000233596, ENSP00000378861
RefSeq: NP_001316485.1, NP_612402.1
Others
UniRef100: UniRef100_Q96HR9, UniRef100_A0A1L5BXV2
UniRef90: UniRef90_Q96HR9
UniRef50: UniRef50_Q96HR9
UniGene: Hs.76277
CCDS: CCDS12070.1

全选

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