| Type | Description |
|---|---|
| Definition | N-acetyl-alpha-glucosaminidase |
| Date | Results | Publications |
|---|---|---|
| 2020-12-05 13:02:00 | Generation of two NAGLU-mutated homozygous cell lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo B syndrome. | 31825816 |
| 2020-04-25 10:29:00 | Structural characterization of the NAGLU, a key enzyme in the pathogenesis of Sanfilippo syndrome B, has been reported. | 30802506 |
| 2019-08-17 10:35:00 | we identified and characterised oncogenic fusion genes and their function in CRC, and implicated NAGLU-IKZF3 and RNF121-FOLR2 as novel molecular targets for personalised medicine development. | 29955133 |
| 2019-03-02 10:06:00 | Data reported the pathogenic missense mutations of NAGLU and CYP26B1 concurrent in one patient, which not only expands the phenotype and genotype spectra of NAGLU and CYP26B1, but more importantly indicates the possibility of simultaneous occurrence of two rare diseases in one patient. | 29606097 |
| 2018-05-19 11:11:00 | findings show that the NAGLU protein consists of a precursor and a mature form and that in slowly progressing mucopolysaccharidosis type IIIB patients' fibroblasts only the precursor protein is present at 37 degrees ; culturing at lower temperatures resulted in the formation of the mature, enzymatically active form, due to higher mRNA levels and improved processing | 28751108 |
| Type | IDs |
|---|---|
| Synonymous | CMT2V, MPS-IIIB, MPS3B, NAG, UFHSD |
| Gene |
UniProtKB-ID:
ANAG_HUMAN,
A0A140VJE4_HUMAN
UniprotKB:
P54802,
A0A140VJE4
UniParc:
UPI000013C885
EMBL:
U40846,
HM005331,
BC053991,
U43572,
U43573,
AC067852,
L78464
Ensembl:
ENSG00000108784
KO:
hsa:4669
|
| Nucleutide sequences |
EMBL-CDS:
AAH53991.1,
AAB06188.1,
AAC50512.1,
AAB36604.1,
AAC50513.1,
AEE60931.1
Ensembl_TRS:
ENST00000225927
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000225927
RefSeq:
NP_000254.2,
XP_016880176.1,
XP_006721983.1,
XP_024306540.1,
XP_024306539.1
|
| Others |
UniRef100:
UniRef100_P54802
UniRef90:
UniRef90_P54802
UniRef50:
UniRef50_P54802
UniGene:
Hs.50727
CCDS:
CCDS11427.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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