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4668 NAGA

4668

NAGA

alpha-N-acetylgalactosaminidase

protein-coding

Homo sapiens

基因描述

Type Description
Definition alpha-N-acetylgalactosaminidase

研究结论

Date Results Publications
2020-10-10 12:59:00 A Novel Homozygous Missense Variant in the NAGA Gene with Extreme Intrafamilial Phenotypic Heterogeneity. 31468281
2015-02-21 10:07:00 results demonstrate the utility of eQTL mapping in the identification of novel asthma genes and provide evidence for the importance of FADS2, NAGA, and F13A1 in the pathogenesis of asthma. 24934276
2010-08-16 12:02:00 the active sites of human lysosomal enzymes alpha-galactosidase and alpha-N-acetylgalactosaminidase have interconvertible specificites 20444686
2010-01-21 00:00:00 NAGA mutation p.D217N (c.649G>A) in exon 6 and mutation p.E325K (c.973G>A) in exon 8 may have roles in alpha-N-acetylgalactosaminidase deficiency with cardiomyopathy 17171432
2010-01-21 00:00:00 Specific enzymatic activity of serum alpha-N-acetylgalactosaminidase was significantly increased in stage III melanoma patients, but not in early stages. 19394758

名称对应

Type IDs
Synonymous D22S674, GALB
Gene
UniProtKB-ID: NAGAB_HUMAN, A0A024R1Q5_HUMAN
UniprotKB: P17050, A0A024R1Q5
UniParc: UPI000012FD03
EMBL: CH471095, M29276, M62783, CR456527, BC000095, Z99716, M59199, M38083
Ensembl: ENSG00000198951
KO: hsa:4668
Nucleutide sequences
EMBL-CDS: AAA36351.1, CAG30413.1, AAA59902.1, AAH00095.1, AAB06718.1, AAA51677.1, EAW60486.1, EAW60484.1, EAW60485.1
Gene_ORFName: hCG_41542
Ensembl_TRS: ENST00000402937, ENST00000396398, ENST00000403363
Protein sequencees
Ensembl_PRO: ENSP00000385283, ENSP00000384603, ENSP00000379680
RefSeq: NP_001349779.1, NP_000253.1, NP_001349777.1
Others
UniRef100: UniRef100_P17050
UniRef90: UniRef90_P17050
UniRef50: UniRef50_P17050
UniGene: Hs.75372
CCDS: CCDS14030.1

全选

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