| Type | Description |
|---|---|
| Definition | alpha-N-acetylgalactosaminidase |
| 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 |
| 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
|
| 排名 | 科研单位 | 文献 |
|---|---|---|
| 1 |
University of Toronto |
2 |
| 2 |
University of Massachusetts |
2 |
| 3 |
Institut de Bioquímica Clínica |
2 |
| 4 |
Division of Medical and Molecular Genetics, Mount Sinai School of Medicine, New York, New York 10029. |
2 |
| 5 |
University of Regina |
1 |
| 排名 | 研究人员 | 文献 |
|---|---|---|
| 1 |
A M Wang |
4 |
| 2 |
D Schindler |
4 |
| 3 |
R J Desnick |
4 |
| 4 |
Joao A Paulo |
2 |
| 5 |
John Szpyt |
2 |