Type | Description |
---|---|
Definition | carbohydrate sulfotransferase 8 |
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 |
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
|
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