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345275 HSD17B13

345275

HSD17B13

hydroxysteroid 17-beta dehydrogenase 13

protein-coding

Homo sapiens

基因描述

Type Description
Definition hydroxysteroid 17-beta dehydrogenase 13

研究结论

Date Results Publications
2021-02-27 13:50:00 Genetic Susceptibility to Chronic Liver Disease in Individuals from Pakistan. 32443539
2020-07-18 11:34:00 A common loss-of-function variant in HSD17B13 (rs72613567:TA) was recently found to protect from chronic liver disease. Whether the variant confers protection from specific risk factors for liver disease is unclear. We tested the association of rs72613567 with plasma levels of alanine transaminase (ALT) and clinical liver disease and mortality in 111,612 individuals from the Danish general population 31155741
2020-06-27 11:45:00 rs72613567 loss of function variant is protective of hepatocellular carcinoma development in patients with alcoholic liver disease 30908678
2020-05-30 11:59:00 lipid droplet-associated retinol dehydrogenase with a role in nonalcoholic fatty liver disease 30415504
2020-02-15 10:07:00 the rs72613567 A-INS allele reduces the risk of NASH and progressive liver damage 30323112

名称对应

Type IDs
Synonymous HMFN0376, NIIL497, SCDR9, SDR16C3
Gene
UniProtKB-ID: DHB13_HUMAN
UniprotKB: Q7Z5P4
UniParc: UPI00000350AE, UPI000018D036
EMBL: AB073347, AY186249, AY186250, CH471057, AY268355, AY358575, BC112305, AK292784, BC112303
Ensembl: ENSG00000170509
KO: hsa:345275
Nucleutide sequences
EMBL-CDS: AAO72314.1, BAD38632.1, AAI12304.1, BAF85473.1, AAQ88938.1, AAI12306.1, AAO72313.1, AAP42289.1, EAX05986.1
Gene_ORFName: HMFN0376, UNQ497/PRO1014
Ensembl_TRS: ENST00000328546, ENST00000302219
Protein sequencees
Ensembl_PRO: ENSP00000305438, ENSP00000333300
RefSeq: NP_835236.2, NP_001129702.1
Others
UniRef100: UniRef100_Q7Z5P4
UniRef90: UniRef90_Q7Z5P4
UniRef50: UniRef50_Q7Z5P4
UniGene: Hs.284414
CCDS: CCDS47097.1, CCDS3618.1

全选

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