GNS Chromosome 12
Glucosamine (N-acetyl)-6-sulfatase
Upload your DNA to see your personal genotypes for variants in GNS.
What This Gene Does
The product of this gene is a lysosomal enzyme found in all cells. It is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate. Deficiency of this enzyme results in the accumulation of undegraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID (Sanfilippo D syndrome). Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Sulfatases
Locus Type
gene with protein product
Location
12q14.3
Ensembl
ENSG00000135677
Associated Conditions (5)
Mucopolysaccharidosis
MPS-III-D
Inborn genetic diseases
Sanfilippo syndrome
GNS-related disorder
Key Variants
RS1320846022
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis
Health Risk
RS138335335
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-III-D, Inborn genetic diseases
Health Risk
RS138790252
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis
Health Risk
RS141958901
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis
Health Risk
RS144220755
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-III-D, Sanfilippo syndrome
Health Risk
RS1869657867
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis
Health Risk
RS200441930
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-III-D, Sanfilippo syndrome
Health Risk
RS202228620
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis
Health Risk
RS371407400
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-III-D, Sanfilippo syndrome
Health Risk
RS543570530
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis
Health Risk
RS545765198
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-III-D, Sanfilippo syndrome
Health Risk
RS575544204
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-III-D, Sanfilippo syndrome
Health Risk
All Variants (82)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1320846022 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis |
| RS138335335 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-D, Inborn genetic diseases |
| RS138790252 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis |
| RS141958901 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis |
| RS144220755 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-D, Sanfilippo syndrome |
| RS1869657867 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis |
| RS200441930 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-D, Sanfilippo syndrome |
| RS202228620 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis |
| RS371407400 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-D, Sanfilippo syndrome |
| RS543570530 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis |
| RS545765198 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-D, Sanfilippo syndrome |
| RS575544204 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-D, Sanfilippo syndrome |
| RS73323465 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-D, Sanfilippo syndrome |
| RS750944174 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis |
| RS757526895 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-D, Sanfilippo syndrome |
| RS766168524 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis |
| RS766615352 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-D, Inborn genetic diseases |
| RS1555220398 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis |
| RS2136240508 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis |
| RS2136247666 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-III-D, Sanfilippo syndrome |
| RS2136253236 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis |
| RS2539505307 | Health Risk | Likely pathogenic | GNS-related disorder, GNS-related disorder |
| RS2539510674 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis |
| RS2539523565 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis |
| RS2539523804 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis |
| RS2539524933 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis |
| RS368414819 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis |
| RS750645480 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-III-D, Sanfilippo syndrome |
| RS786205619 | Health Risk | Likely pathogenic | — |
| RS119461974 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis |
| RS119461975 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis |
| RS1214781989 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis |
| RS1219484230 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis |
| RS1365770233 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis |
| RS1470760407 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis |
| RS1555164555 | Health Risk | Pathogenic | — |
| RS1869297835 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis |
| RS1869939768 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis |
| RS1869941124 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis |
| RS1870392122 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis |
| RS2136236619 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis |
| RS2136236649 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis |
| RS2136237257 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis |
| RS2136245530 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis |
| RS2136246147 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis |
| RS2136247574 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis |
| RS2136247644 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis |
| RS2136247658 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis |
| RS2136248422 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis |
| RS2136248430 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis |