AGA Chromosome 4
Aspartylglucosaminidase
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What This Gene Does
This gene encodes a member of the N-terminal nucleophile (Ntn) hydrolase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta chains that comprise the mature enzyme. This enzyme is involved in the catabolism of N-linked oligosaccharides of glycoproteins. It cleaves asparagine from N-acetylglucosamines as one of the final steps in the lysosomal breakdown of glycoproteins. Mutations in this gene are associated with the lysosomal storage disease aspartylglycosaminuria that results in progressive neurodegeneration. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is subject to proteolytic processing. [provided by RefSeq, Nov 2015]
Associated Conditions (7)
Aspartylglucosaminuria
Inborn genetic diseases
Intellectual disability
Sarcoma
ASPARTYLGLUCOSAMINURIA
FINNISH TYPE
Autism
Key Variants
RS138699617
Conflicting classifications of pathogenicity
Aspartylglucosaminuria, Aspartylglucosaminuria
Health Risk
RS145465919
Conflicting classifications of pathogenicity
Aspartylglucosaminuria, Inborn genetic diseases, Aspartylglucosaminuria
Health Risk
RS146381591
Conflicting classifications of pathogenicity
Aspartylglucosaminuria, Intellectual disability, Aspartylglucosaminuria
Health Risk
RS34019119
Conflicting classifications of pathogenicity
Aspartylglucosaminuria, Inborn genetic diseases, Aspartylglucosaminuria
Health Risk
RS369035792
Conflicting classifications of pathogenicity
Aspartylglucosaminuria, Aspartylglucosaminuria
Health Risk
RS371221470
Conflicting classifications of pathogenicity
Inborn genetic diseases, Aspartylglucosaminuria, Inborn genetic diseases
Health Risk
RS386833434
Conflicting classifications of pathogenicity
Aspartylglucosaminuria, Aspartylglucosaminuria
Health Risk
RS74626221
Conflicting classifications of pathogenicity
Aspartylglucosaminuria, Aspartylglucosaminuria
Health Risk
RS752914246
Conflicting classifications of pathogenicity
Aspartylglucosaminuria, Aspartylglucosaminuria
Health Risk
RS766776902
Conflicting classifications of pathogenicity
Aspartylglucosaminuria, Aspartylglucosaminuria
Health Risk
RS778434616
Conflicting classifications of pathogenicity
Aspartylglucosaminuria, Aspartylglucosaminuria
Health Risk
RS1057516565
Likely pathogenic
Aspartylglucosaminuria, Aspartylglucosaminuria, Aspartylglucosaminuria
Health Risk
All Variants (98)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS986682657 | Health Risk | Likely pathogenic | Aspartylglucosaminuria, Aspartylglucosaminuria, Aspartylglucosaminuria |
| RS121964904 | Health Risk | Pathogenic | ASPARTYLGLUCOSAMINURIA, FINNISH TYPE, Aspartylglucosaminuria |
| RS121964909 | Health Risk | Pathogenic | Aspartylglucosaminuria, Aspartylglucosaminuria |
| RS1560950739 | Health Risk | Pathogenic | Aspartylglucosaminuria, Aspartylglucosaminuria |
| RS1560950756 | Health Risk | Pathogenic | Aspartylglucosaminuria, Aspartylglucosaminuria |
| RS1736687730 | Health Risk | Pathogenic | Aspartylglucosaminuria, Aspartylglucosaminuria |
| RS1736861131 | Health Risk | Pathogenic | Aspartylglucosaminuria, Aspartylglucosaminuria |
| RS1736955435 | Health Risk | Pathogenic | Aspartylglucosaminuria, Aspartylglucosaminuria |
| RS1736958050 | Health Risk | Pathogenic | Aspartylglucosaminuria, Aspartylglucosaminuria |
| RS2111013273 | Health Risk | Pathogenic | Aspartylglucosaminuria, Aspartylglucosaminuria |
| RS2111015862 | Health Risk | Pathogenic | Aspartylglucosaminuria, Aspartylglucosaminuria |
| RS2111015936 | Health Risk | Pathogenic | Aspartylglucosaminuria, Aspartylglucosaminuria |
| RS2111021475 | Health Risk | Pathogenic | Aspartylglucosaminuria, Aspartylglucosaminuria |
| RS2111021738 | Health Risk | Pathogenic | Aspartylglucosaminuria, Aspartylglucosaminuria |
| RS2476845907 | Health Risk | Pathogenic | Aspartylglucosaminuria, Aspartylglucosaminuria |
| RS2476858091 | Health Risk | Pathogenic | Aspartylglucosaminuria, Aspartylglucosaminuria |
| RS2476887316 | Health Risk | Pathogenic | Aspartylglucosaminuria, Aspartylglucosaminuria |
| RS386833422 | Health Risk | Pathogenic | Aspartylglucosaminuria, Aspartylglucosaminuria |
| RS386833436 | Health Risk | Pathogenic | Aspartylglucosaminuria, Inborn genetic diseases, Aspartylglucosaminuria |
| RS386833437 | Health Risk | Pathogenic | Aspartylglucosaminuria, Aspartylglucosaminuria, Aspartylglucosaminuria |
| RS745976989 | Health Risk | Pathogenic | Aspartylglucosaminuria, Aspartylglucosaminuria |
| RS754336186 | Health Risk | Pathogenic | Aspartylglucosaminuria, Aspartylglucosaminuria |
| RS759063638 | Health Risk | Pathogenic | Aspartylglucosaminuria, Aspartylglucosaminuria |
| RS764598121 | Health Risk | Pathogenic | Aspartylglucosaminuria, Aspartylglucosaminuria |
| RS765070743 | Health Risk | Pathogenic | Aspartylglucosaminuria, Aspartylglucosaminuria |
| RS778172371 | Health Risk | Pathogenic | Aspartylglucosaminuria, Aspartylglucosaminuria |
| RS991950983 | Health Risk | Pathogenic | Aspartylglucosaminuria, Aspartylglucosaminuria |
| RS1054938291 | Health Risk | Pathogenic/Likely pathogenic | Aspartylglucosaminuria, Aspartylglucosaminuria |
| RS1057517223 | Health Risk | Pathogenic/Likely pathogenic | Aspartylglucosaminuria, Aspartylglucosaminuria |
| RS121964908 | Health Risk | Pathogenic/Likely pathogenic | Aspartylglucosaminuria, Autism, Aspartylglucosaminuria |
| RS1553994830 | Health Risk | Pathogenic/Likely pathogenic | Aspartylglucosaminuria, Aspartylglucosaminuria |
| RS1736641565 | Health Risk | Pathogenic/Likely pathogenic | Aspartylglucosaminuria, Aspartylglucosaminuria |
| RS1736926873 | Health Risk | Pathogenic/Likely pathogenic | Aspartylglucosaminuria, Aspartylglucosaminuria |
| RS1736928101 | Health Risk | Pathogenic/Likely pathogenic | Aspartylglucosaminuria, Aspartylglucosaminuria |
| RS201701066 | Health Risk | Pathogenic/Likely pathogenic | Aspartylglucosaminuria, Aspartylglucosaminuria |
| RS2476870897 | Health Risk | Pathogenic/Likely pathogenic | Aspartylglucosaminuria, Aspartylglucosaminuria |
| RS370078048 | Health Risk | Pathogenic/Likely pathogenic | Aspartylglucosaminuria, Aspartylglucosaminuria |
| RS386833417 | Health Risk | Pathogenic/Likely pathogenic | Aspartylglucosaminuria, Aspartylglucosaminuria |
| RS386833418 | Health Risk | Pathogenic/Likely pathogenic | Aspartylglucosaminuria, Aspartylglucosaminuria |
| RS386833423 | Health Risk | Pathogenic/Likely pathogenic | Aspartylglucosaminuria, Aspartylglucosaminuria |
| RS386833425 | Health Risk | Pathogenic/Likely pathogenic | Aspartylglucosaminuria, Aspartylglucosaminuria, Aspartylglucosaminuria |
| RS386833426 | Health Risk | Pathogenic/Likely pathogenic | Aspartylglucosaminuria, Aspartylglucosaminuria |
| RS386833430 | Health Risk | Pathogenic/Likely pathogenic | Aspartylglucosaminuria, Inborn genetic diseases, Aspartylglucosaminuria |
| RS386833431 | Health Risk | Pathogenic/Likely pathogenic | Aspartylglucosaminuria, Aspartylglucosaminuria |
| RS386833433 | Health Risk | Pathogenic/Likely pathogenic | Aspartylglucosaminuria, Aspartylglucosaminuria |
| RS748171793 | Health Risk | Pathogenic/Likely pathogenic | Aspartylglucosaminuria, Aspartylglucosaminuria |
| RS764357395 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Aspartylglucosaminuria, Inborn genetic diseases |
| RS771563230 | Health Risk | Pathogenic/Likely pathogenic | Aspartylglucosaminuria, Aspartylglucosaminuria |