| Type | Description |
|---|---|
| Definition | galactosamine (N-acetyl)-6-sulfatase |
| Date | Results | Publications |
|---|---|---|
| 2021-02-02 13:24:00 | Natural history of the oldest known females with mucopolysaccharidosis type IVA (Morquio A syndrome). | 32216080 |
| 2019-06-23 15:00:00 | he aim of our work was to analyze the aforementioned anthropometric parameters, including correlation to molecular data (causative GALNS mutations). | 30927141 |
| 2019-06-22 10:17:00 | Insights into the initial and follow-up clinical features and height values that contribute to the differential diagnosis of the severe and intermediate phenotypes in Mucopolysaccharidosis IV A in early childhood. Eleven mutations in GALNS gene in which one of them is novel (c.416G>A) were associated with the severe phenotype and three mutations (c.1038C>A, c.850T>G, c.752G>A) lead to the attenuated phenotype. | 30980944 |
| 2019-05-25 12:35:00 | Mis-splicing of the GALNS gene resulting from deep intronic mutations has been determined as a cause of Morquio a disease in three unrelated patients. | 30305043 |
| 2019-04-27 10:40:00 | Currently, urinary and blood chondroitin-6-sulfate and keratan sulfate, the enzyme activity of GALNS, and GALNS molecular analysis are used for diagnosis and prognosis of clinical phenotype in Mucopolysaccharidosis IVA(MPS IVA). MPS IVA can be diagnosed with unique characters although this disorder relates closely to other disorders in some characteristics | 29779902 |
| Type | IDs |
|---|---|
| Synonymous | GALNAC6S, GAS, GalN6S, MPS4A |
| Gene |
UniProtKB-ID:
GALNS_HUMAN,
Q6YL38_HUMAN,
Q96I49_HUMAN
UniprotKB:
P34059,
Q6YL38,
Q96I49
UniParc:
UPI0000227D9A,
UPI00002318A7,
UPI000012AF92
EMBL:
U06081,
U06082,
U06083,
U06079,
U06086,
BC007825,
U06085,
BC056151,
D17629,
BC050684,
U06084,
U06087,
U06088,
U06078,
U06080,
AY129021
Ensembl:
ENSG00000141012
KO:
hsa:2588
|
| Nucleutide sequences |
EMBL-CDS:
AAH50684.2,
AAH56151.1,
BAA04535.1,
AAC51350.1,
AAM98764.1,
AAH07825.2
Ensembl_TRS:
ENST00000268695
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000268695
RefSeq:
XP_016878600.1,
XP_005256358.1,
NP_001310472.1,
XP_016878601.1,
NP_000503.1,
XP_016878602.1,
NP_001310473.1,
XP_011521284.1
|
| Others |
UniRef100:
UniRef100_P34059,
UniRef100_Q6YL38
UniRef90:
UniRef90_Q6YL38,
UniRef90_P34059
UniRef50:
UniRef50_A0A452EL24,
UniRef50_P34059
UniGene:
Hs.271383
CCDS:
CCDS10970.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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