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411 ARSB

411

ARSB

arylsulfatase B

protein-coding

Homo sapiens

基因描述

Type Description
Definition arylsulfatase B

研究结论

Date Results Publications
2021-02-27 13:54:00 A Possible Role for Arylsulfatase G in Dermatan Sulfate Metabolism. 32664626
2020-01-11 12:18:00 Data of this study confirms the existence of mutational heterogeneity in the ARSB between Iranian patients. 30982216
2019-06-22 15:01:00 Sequencing analysis of ARSB gene revealed four pathogenic homozygote mutations, including a novel nonsense mutation c.281C>A (p.Ser94X) in 9 patients, as well as, a known nonsense mutation c.753C>G (p.Try251X) in 3 cases, and two missense mutations c.904G>A (p.Gly302Arg) and c.454C>T (p.Arg152Trp) in two cases. The type of mutations affected the severity patient's phenotypes. 31009684
2019-03-16 11:49:00 Decreased ARSB expression is associated with cystic fibrosis. 29703589
2019-02-16 10:34:00 Low ARSB expression is associated with prostate cancer. 29794138

名称对应

Type IDs
Synonymous ASB, G4S, MPS6
Gene
UniProtKB-ID: ARSB_HUMAN, A0A024RAJ9_HUMAN, A8K4A0_HUMAN
UniprotKB: P15848, A0A024RAJ9, A8K4A0
UniParc: UPI00015DA718, UPI00000728C3, UPI00001260A3
EMBL: AC025755, X72735, CH471084, AK290865, X72737, X72738, AC114963, X72742, AK314903, X72739, BC029051, AC020937, AC099485, X72736, X72741, J05225, X72740, M32373, S57777
Ensembl: ENSG00000113273
KO: hsa:411
Nucleutide sequences
EMBL-CDS: AAA51784.1, AAA51779.1, CAA51272.1, AAB19988.1, BAG37417.1, EAW95822.1, AAH29051.1, EAW95823.1, EAW95821.1, BAF83554.1
Gene_ORFName: hCG_37743
Ensembl_TRS: ENST00000264914, ENST00000396151
Protein sequencees
Ensembl_PRO: ENSP00000264914, ENSP00000379455
RefSeq: XP_011541693.1, XP_011541694.1, XP_011541692.1, XP_011541695.1, XP_016864960.1, NP_000037.2, NP_942002.1
Others
UniRef100: UniRef100_P15848, UniRef100_A8K4A0
UniRef90: UniRef90_P15848-2, UniRef90_P15848
UniRef50: UniRef50_P15848-2, UniRef50_P15848
UniGene: Hs.149103, Hs.604199
CCDS: CCDS43334.1, CCDS4043.1

全选

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