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64377 CHST8

64377

CHST8

carbohydrate sulfotransferase 8

protein-coding

Homo sapiens

基因描述

Type Description
Definition carbohydrate sulfotransferase 8

研究结论

Date Results Publications
2017-08-05 11:08:00 These findings, an allele frequency of 0.004357, and a 10-fold difference in prevalence of CHST8 (c.299 C > T, R77W) across different ethnic groups, suggest that this sequence represents a "passenger" distributed polymorphism, a simple sequence variant form of the enzyme having normal activity, rather than a "driver" disease-causing mutation that accounts for peeling skin syndrome 28204496
2012-07-28 10:42:00 A missense mutation in the CHST8 gene, encoding GalNAc4-ST1, is the underlying cause of type A non-inflammatory peeling skin syndrome in this family. 22289416
2010-09-15 22:06:00 Observational study of gene-disease association. (HuGE Navigator) 20816195
2010-06-30 22:06:00 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) 20379614
2010-01-21 00:00:00 analysis of enzymatic properties and expression of GalNAc-4-sulfotransferase-1 and GalNAc-4-sulfotransferase-2 16079414

名称对应

Type IDs
Synonymous GALNAC4ST1, GalNAc4ST, PSS3
Gene
UniProtKB-ID: CHST8_HUMAN
UniprotKB: Q9H2A9
UniParc: UPI000006F966
EMBL: BC018723, AF305781, BC014250, AB047801, BC011380, AF300612
Ensembl: ENSG00000124302
KO: hsa:64377
Nucleutide sequences
EMBL-CDS: BAB19806.1, AAH11380.1, AAG39444.1, AAH14250.1, AAL09373.1, AAH18723.1
Ensembl_TRS: ENST00000434302, ENST00000438847, ENST00000262622, ENST00000650847
Protein sequencees
Ensembl_PRO: ENSP00000392604, ENSP00000393879, ENSP00000499084, ENSP00000262622
RefSeq: NP_001121367.1, XP_011525524.1, NP_071912.2, XP_011525526.1, XP_016882632.1, NP_001121368.1
Others
UniRef100: UniRef100_Q9H2A9
UniRef90: UniRef90_Q9H2A9
UniRef50: UniRef50_Q9H2A9
UniGene: Hs.165724
CCDS: CCDS12433.1

全选

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