| Entry |
|
|---|
| Name |
|
|---|
| Type |
Loss of function
|
|---|
| Gene |
GNS glucosamine (N-acetyl)-6-sulfatase [KO: K01137]
|
|---|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
|---|
| Variation |
|
|---|
| Network |
nt06012 Glycosaminoglycan degradation |
|---|
| Disease |
| H00130 | Mucopolysaccharidosis type III |
|
|---|
| Reference |
|
|---|
| Authors |
Kresse H, Paschke E, von Figura K, Gilberg W, Fuchs W |
|---|
| Title |
Sanfilippo disease type D: deficiency of N-acetylglucosamine-6-sulfate sulfatase required for heparan sulfate degradation. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Beesley CE, Burke D, Jackson M, Vellodi A, Winchester BG, Young EP |
|---|
| Title |
Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Mok A, Cao H, Hegele RA |
|---|
| Title |
Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase. |
|---|
| Journal |
|
|---|
| LinkDB |
|
|---|
