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2131 EXT1

2131

EXT1

exostosin glycosyltransferase 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition exostosin glycosyltransferase 1

研究结论

Date Results Publications
2020-12-19 13:40:00 Identification of Novel EXT Mutations in Patients with Hereditary Multiple Exostoses Using Whole-Exome Sequencing. 32293802
2020-09-26 13:05:00 Exostosin-1 enhances canonical Wnt signaling activity during chondrogenic differentiation. 31330188
2020-06-27 12:49:00 Study validated EXT1, TM9SF2, and TMED10 as important host factors for vaccinia virus infection. 30996093
2020-01-25 14:49:00 EXT1- or miR-665-targeted strategies can confer the therapeutic effect of promoting apoptosis by deactivating the ERK1/2 pathway. 31465316
2019-09-07 12:15:00 identification of mutations in EXT1 and EXT2 in Cypriot patients with a clinical diagnosis of hereditary multiple osteochondromas (HMO); five patients, representing the first report of genetic screening of HMO affected individuals in the Cypriot population are described 26690531

名称对应

Type IDs
Synonymous EXT, LGCR, LGS, TRPS2, TTV
Gene
UniProtKB-ID: EXT1_HUMAN
UniprotKB: Q16394
UniParc: UPI000012A3A1
EMBL: AK313129, S79639, U70539, BC001174, CH471060
Ensembl: ENSG00000182197
KO: hsa:2131
Nucleutide sequences
EMBL-CDS: AAH01174.1, EAW91972.1, AAB62283.1, AAC51154.1, BAG35949.1
Ensembl_TRS: ENST00000378204
Protein sequencees
Ensembl_PRO: ENSP00000367446
RefSeq: NP_000118.2
Others
UniRef100: UniRef100_Q16394
UniRef90: UniRef90_P97464
UniRef50: UniRef50_P97464
UniGene: Hs.492618
CCDS: CCDS6324.1

全选

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