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1146 CHRNG

1146

CHRNG

cholinergic receptor nicotinic gamma subunit

protein-coding

Homo sapiens

基因描述

Type Description
Definition cholinergic receptor nicotinic gamma subunit

研究结论

Date Results Publications
2020-06-13 10:47:00 Our study contributes to further define the phenotypic spectrum of CHRNG-related nonlethal MPS, including muscle imaging features, which may be useful in distinguishing it from other diffuse arthrogryposis entities. 30868735
2020-05-09 10:17:00 A homozygous nonsense CHRNG variant c.136C>T (p.R46*), predicted to produce a truncated protein that leads to acetylcholine receptor deficiency was detected in a consanguineous Pakistani family with Escobar syndrome. 30461311
2017-09-16 11:52:00 CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome 27245440
2016-01-16 11:44:00 Two siblings with Escobar syndrome caused by homozygous mutations of the CHRNG gene were identified. 25411939
2015-10-10 10:59:00 Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations. 25608830

名称对应

Type IDs
Synonymous ACHRG
Gene
UniProtKB-ID: ACHG_HUMAN, A0A6F7YAP6_HUMAN
UniprotKB: P07510, A0A6F7YAP6
UniParc: UPI000022BE9E, UPI0000E07F8B
EMBL: X01718, AK125362, X01717, X01721, X01716, BC111802, X01715, X01720, AC092165, X04759, KU870925, X01719
Ensembl: ENSG00000196811
KO: hsa:1146
Nucleutide sequences
EMBL-CDS: BAG54190.1, AAY24103.1, CAA25861.1, AAI11803.1, ANC57572.1
Ensembl_TRS: ENST00000389492, ENST00000651502
Protein sequencees
Ensembl_PRO: ENSP00000374143, ENSP00000498757
RefSeq: NP_005190.4
Others
UniRef100: UniRef100_P07510
UniRef90: UniRef90_P07510
UniRef50: UniRef50_P07510
UniGene: Hs.248101
CCDS: CCDS33400.1

全选

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研究热度

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