CHKB - choline kinase beta-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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1120 CHKB

基因描述

Type	Description
Definition	choline kinase beta

研究结论

Date	Results	Publications
2021-03-27 14:41:00	Megaconial congenital muscular dystrophy: Same novel homozygous mutation in CHKB gene in two unrelated Chinese patients.	31926838
2020-05-02 11:55:00	Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene.	30986505
2017-07-15 12:10:00	findings suggest that CKbeta, in concert with CKalpha, and depending on its phosphorylation status, might play a critical role as a druggable target in carcinogenesis	27149373
2017-02-04 12:33:00	The whole exome sequencing revealed a novel homozygous missense mutation in the Choline Kinase-Beta (CHKB) gene in exon 9.	27123443
2016-09-24 11:05:00	A new form of congenital muscular dystrophy with multisystem involvement and characteristic mitochondrial structural changes, due to choline kinase beta gene defects has been characterized.	26067811

名称对应

Type	IDs
Synonymous	CHETK, CHKL, CK, CKB, CKEKB, EK, EKB, MDCMC
Gene	UniProtKB-ID: CHKB_HUMAN, A0A024R4X4_HUMAN UniprotKB: Q9Y259, A0A024R4X4 UniParc: UPI000012DE4D, UPI000016144C EMBL: BC113521, BC101488, AL096781, BC082263, AB029885, AB029886, U62317, CH471138, AL096780, AK314324, CR456419 Ensembl: ENSG00000100288 KO: hsa:1120
Nucleutide sequences	EMBL-CDS: BAA82511.1, BAG36972.1, CAG30305.1, AAI13522.2, CAB46629.1, AAB03342.2, AAH82263.1, CAB46630.1, AAI01489.1, EAW73573.1, BAA82512.1, EAW73574.1, EAW73575.1 Gene_ORFName: hCG_16873 Ensembl_TRS: ENST00000406938
Protein sequencees	Ensembl_PRO: ENSP00000384400 RefSeq: NP_005189.2
Others	UniRef100: UniRef100_Q9Y259 UniRef90: UniRef90_Q9Y259 UniRef50: UniRef50_Q9Y259 UniGene: Hs.654827 CCDS: CCDS14099.1

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mRNA

Protein

UniprotKB

Description

Refseq

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全选

Pubmed编号	文献信息	发表日期	相关基因
31926838	Megaconial congenital muscular dystrophy: Same novel homozygous mutation in CHKB gene in two unrelated Chinese patients. Neuromuscul Disord Sophelia Hs Chan , Ronnie Sl Ho , P L Khong , Brian Hy Chung , Mandy Hy Tsang , Mullin Hc Yu , Matthew Cw Yeung , Angel Ok Chan , C W Fung	2020-01-01	-
30986505	Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene. Mitochondrion Silvia Marchet , Federica Invernizzi , Flavia Blasevich , Valentina Bruno , Sabrina Dusi , Paola Venco , Chiara Fiorillo , Giovanni Baranello , Francesco Pallotti , Eleonora Lamantea , Marina Mora , Valeria Tiranti , Costanza Lamperti	2019-07-01	-
27123443	Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies. Biomed Res Int UluÃ§ Yis , Figen Baydan , Mert Karakaya , Semra HÄ±z Kurul , Sebahattin Cirak	2016-01-01	-
27149373	Phosphorylation of Human Choline Kinase Beta by Protein Kinase A: Its Impact on Activity and Inhibition. PLoS ONE Ching Ching Chang , Ling Ling Few , Manfred Konrad , Wei Cun See Too	2016-01-01	-
26067811	Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients. J. Inherit. Metab. Dis. Goknur Haliloglu , Beril Talim , Cigdem Genc Sel , Haluk Topaloglu	2015-11-01	-
25740612	New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing. J Hum Genet Jorge Oliveira , LuÃs NegrÃ£o , Isabel Fineza , Ricardo Taipa , Manuel Melo-Pires , Ana Maria Fortuna , Ana Rita GonÃ§alves , Hugo Froufe , ConceiÃ§Ã£o Egas , RosÃ¡rio Santos , MÃ¡rio Sousa	2015-06-01	-
24571861	Identification of the variations in the CPT1B and CHKB genes along with the HLA-DQB1*06:02 allele in Turkish narcolepsy patients and healthy persons. Genet Test Mol Biomarkers Sultan Cingoz , Sinem Agilkaya , Ibrahim Oztura , Secil Eroglu , Derya Karadeniz , Ahmet Evlice , Oguz Altungoz , Hikmet Yilmaz , Baris Baklan	2014-04-01	CHKB, CPT1B, HLA-DQB1
23945283	Megaconial congenital muscular dystrophy due to loss-of-function mutations in choline kinase Î². Curr. Opin. Neurol. Satomi Mitsuhashi , Ichizo Nishino	2013-10-01	CHKB
23692895	Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: extending the clinical and pathological phenotype. Neuromuscul. Disord. Ros Quinlivan , Satomi Mitsuahashi , Caroline Sewry , Sebahattin Cirak , Chieko Aoyama , David Mooore , Stephen Abbs , Stephanie Robb , Tina Newton , Celia Moss , Daniel Birchall , Hiroyuki Sugimoto , Kate Bushby , Michela Guglieri , Francesco Muntoni , Ichizo Nishino , Volker Straub	2013-07-01	-
24291895	[New congenital muscular dystrophy due to CHKB mutations]. Rinsho Shinkeigaku Ichizo Nishino	2013-01-01	-

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