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79796 ALG9

79796

ALG9

ALG9 alpha-1,2-mannosyltransferase

protein-coding

Homo sapiens

基因描述

Type Description
Definition ALG9 alpha-1,2-mannosyltransferase

研究结论

Date Results Publications
2021-01-09 13:28:00 LncRNA MEG3 contributes to drug resistance in acute myeloid leukemia by positively regulating ALG9 through sponging miR-155. 32359033
2020-06-06 10:15:00 ALG9 is a novel disease gene in the genetically heterogeneous autosomal dominant polycystic kidney disease (ADPKD) spectrum. 31395617
2017-07-29 12:07:00 ALG9 is upregulated in peripheral blood mononuclear cells of galactosaemia patients. 26733289
2016-10-08 11:43:00 Our study shows that some pathogenic variants in ALG9 can present as a lethal skeletal dysplasia with visceral malformations as the most severe phenotype 25966638
2010-01-21 00:00:00 Due to the ALG9 deficiency, cells accumulated the lipid-linked oligosaccharides Man(6)GlcNAc(2)-PP-dolichol and Man(8)GlcNAc(2)-PP-dolichol. 19451548

名称对应

Type IDs
Synonymous CDG1L, DIBD1, GIKANIS, LOH11CR1J
Gene
UniProtKB-ID: ALG9_HUMAN
UniprotKB: Q9H6U8
UniParc: UPI000006ED01, UPI000058E4B0, UPI0000037C0B, UPI000058E4AF
EMBL: AK025498, AK172828, BC009255, AF395532, AF454937, AL136927
Ensembl: ENSG00000086848
KO: hsa:79796
Nucleutide sequences
EMBL-CDS: BAD18793.1, AAL25798.1, CAB66861.1, AAH09255.1, AAP97696.1, BAB15154.1
Ensembl_TRS: ENST00000531154, ENST00000616540, ENST00000398006, ENST00000614444
Protein sequencees
Ensembl_PRO: ENSP00000484200, ENSP00000482437, ENSP00000435517, ENSP00000381090
RefSeq: XP_005277780.1, NP_001339350.1, NP_001339348.1, XP_016873802.1, XP_024304463.1, NP_001071159.1, NP_001339345.1, NP_001339342.1, NP_001339352.1, NP_001339338.1, NP_001339339.1, NP_001339344.1, XP_016873803.1, XP_006718976.1, NP_001339340.1, XP_011541294.1, NP_001339341.1, NP_001339351.1, NP_001071158.1, NP_001339346.1, NP_079016.2, NP_001071160.1, NP_001339343.1, NP_001339347.1, NP_001339349.1
Others
UniRef100: UniRef100_Q9H6U8
UniRef90: UniRef90_Q9H6U8
UniRef50: UniRef50_Q9H6U8
UniGene: Hs.745155
CCDS: CCDS73380.1, CCDS41714.1, CCDS73379.1, CCDS53709.1

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