GNS Chromosome 12

Glucosamine (N-acetyl)-6-sulfatase
82 variants 82 Health Risk

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
RS2136248862 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis
RS2136249835 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis
RS2136249878 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis
RS2136259310 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis
RS2136259376 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis
RS2136259586 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis
RS2136259630 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis
RS2539503808 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis
RS2539505244 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis
RS2539519779 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis
RS2539519835 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis
RS2539519932 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis
RS2539527738 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis
RS2539527781 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis
RS2539527952 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis
RS2539528031 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis
RS2539533247 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis
RS2539542110 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis
RS3203621 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis
RS483352898 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis
RS483352899 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis
RS483352900 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis
RS759378094 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis
RS765701552 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis
RS777789027 Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis
RS1355457071 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis
RS2136237909 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis
RS2539505252 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis
RS2539517747 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis
RS2539517850 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis
RS2539523681 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis
RS749187018 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-D, Mucopolysaccharidosis
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