| Type | Description |
|---|---|
| Definition | N-sulfoglucosamine sulfohydrolase |
| Date | Results | Publications |
|---|---|---|
| 2019-04-27 11:36:00 | Sulfamidase activity in 238 random newborns was well elevated compared to the range of activities measured in dried blood spots from 8 patients previously confirmed to have mucopolysaccharidosis III-A. | 30006231 |
| 2017-11-25 14:05:00 | CSF enzyme activity levels for either SGSH (in MPS IIIA subjects) or NAGLU (in MPS IIIB) significantly differed from normal controls. Several other behavioral or functional measures were found to be uninformative in this population, including timed functional motor tests. | 27590925 |
| 2017-11-11 12:52:00 | We have identified ocular features of a patient with Sanfilippo syndrome type IIIA harboring a novel SGHS mutation that were not previously known to occur in this disease - namely, a progressive retinopathy with distinctive features, cystic macular changes responsive to carbonic anhydrase inhibitors, and complex electroretinographic abnormalities consistent with postreceptoral dysfunction. | 26331342 |
| 2016-04-09 10:09:00 | results demonstrate that a single systemic scAAVrh74-hSGSH delivery mediated efficient restoration of SGSH activity and resulted in a near complete correction of MPS IIIA molecular pathology | 25592334 |
| 2015-05-16 10:48:00 | The crystal structure of glycosylated sulfamidase provides insight into the diverse effects of pathogenic mutations on sulfamidase function in mucopolysaccharidosis type IIIA. | 24816101 |
| Type | IDs |
|---|---|
| Synonymous | HSS, MPS3A, SFMD |
| Gene |
UniProtKB-ID:
SPHM_HUMAN
UniprotKB:
P51688
UniParc:
UPI000000DBD0
EMBL:
U60107,
U60108,
AK291257,
U60110,
U60109,
BC047318,
U30894,
U60111
Ensembl:
ENSG00000181523
KO:
hsa:6448
|
| Nucleutide sequences |
EMBL-CDS:
BAF83946.1,
AAB17952.1,
AAH47318.1,
AAA86530.1
Ensembl_TRS:
ENST00000326317
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000314606
RefSeq:
XP_005257640.1,
XP_016880441.1,
XP_011523428.1,
NP_001339850.1,
NP_001339851.1,
NP_000190.1
|
| Others |
UniRef100:
UniRef100_P51688
UniRef90:
UniRef90_P51688
UniRef50:
UniRef50_P51688
UniGene:
Hs.31074
CCDS:
CCDS11770.1
|
| {{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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