GNPTG Chromosome 16
N-acetylglucosamine-1-phosphate transferase subunit gamma
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What This Gene Does
This gene encodes the gamma sunbunit of the N-acetylglucosamine-1-phosphotransferase complex. This hexameric complex, composed of alpha, beta and gamma subunits, catalyzes the first step in synthesis of a mannose 6-phosphate lysosomal recognition marker. This enzyme complex is necessary for targeting of lysosomal hydrolases to the lysosome. Mutations in the gene encoding the gamma subunit have been associated with mucolipidosis IIIC, also known as mucolipidosis III gamma.[provided by RefSeq, Feb 2010]
Gene Info
Gene Group
MRH domain containing
Locus Type
gene with protein product
Location
16p13.3
Ensembl
ENSG00000090581
Associated Conditions (10)
GNPTG-mucolipidosis
Inborn genetic diseases
GNPTG-related disorder
Retinal dystrophy
Malignant tumor of urinary bladder
Mucolipidosis
Familial cancer of breast
Melanoma
Nonpapillary renal cell carcinoma
Rod-cone dystrophy
Key Variants
RS1292636769
Conflicting classifications of pathogenicity
GNPTG-mucolipidosis, Inborn genetic diseases, GNPTG-mucolipidosis
Health Risk
RS145313679
Conflicting classifications of pathogenicity
GNPTG-mucolipidosis, GNPTG-mucolipidosis
Health Risk
RS1555451684
Conflicting classifications of pathogenicity
GNPTG-mucolipidosis, GNPTG-mucolipidosis
Health Risk
RS200741370
Conflicting classifications of pathogenicity
GNPTG-mucolipidosis, Inborn genetic diseases, GNPTG-mucolipidosis
Health Risk
RS201045559
Conflicting classifications of pathogenicity
GNPTG-mucolipidosis, GNPTG-mucolipidosis
Health Risk
RS201263537
Conflicting classifications of pathogenicity
GNPTG-mucolipidosis, GNPTG-mucolipidosis
Health Risk
RS202080062
Conflicting classifications of pathogenicity
GNPTG-mucolipidosis, GNPTG-mucolipidosis
Health Risk
RS202240106
Conflicting classifications of pathogenicity
GNPTG-mucolipidosis, GNPTG-mucolipidosis
Health Risk
RS368478807
Conflicting classifications of pathogenicity
GNPTG-mucolipidosis, GNPTG-related disorder, Retinal dystrophy
Health Risk
RS369333639
Conflicting classifications of pathogenicity
GNPTG-mucolipidosis, GNPTG-mucolipidosis
Health Risk
RS370857842
Conflicting classifications of pathogenicity
GNPTG-mucolipidosis, GNPTG-mucolipidosis
Health Risk
RS371060844
Conflicting classifications of pathogenicity
GNPTG-mucolipidosis, GNPTG-mucolipidosis
Health Risk
All Variants (130)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2548189368 | Health Risk | Pathogenic | — |
| RS2548189385 | Health Risk | Pathogenic | — |
| RS2548189596 | Health Risk | Pathogenic | — |
| RS2548189836 | Health Risk | Pathogenic | — |
| RS2548189846 | Health Risk | Pathogenic | — |
| RS2548190056 | Health Risk | Pathogenic | — |
| RS2548190486 | Health Risk | Pathogenic | — |
| RS2548190488 | Health Risk | Pathogenic | — |
| RS2548190647 | Health Risk | Pathogenic | — |
| RS2548190655 | Health Risk | Pathogenic | — |
| RS281864956 | Health Risk | Pathogenic | GNPTG-mucolipidosis, GNPTG-mucolipidosis |
| RS552402857 | Health Risk | Pathogenic | GNPTG-mucolipidosis, GNPTG-mucolipidosis |
| RS750990691 | Health Risk | Pathogenic | — |
| RS753596034 | Health Risk | Pathogenic | GNPTG-mucolipidosis, GNPTG-mucolipidosis |
| RS756093689 | Health Risk | Pathogenic | — |
| RS756225251 | Health Risk | Pathogenic | GNPTG-mucolipidosis, Rod-cone dystrophy, GNPTG-mucolipidosis |
| RS756679779 | Health Risk | Pathogenic | — |
| RS756959430 | Health Risk | Pathogenic | GNPTG-mucolipidosis, GNPTG-mucolipidosis |
| RS757394606 | Health Risk | Pathogenic | — |
| RS757581909 | Health Risk | Pathogenic | — |
| RS763678034 | Health Risk | Pathogenic | GNPTG-mucolipidosis, GNPTG-mucolipidosis |
| RS766055577 | Health Risk | Pathogenic | — |
| RS776107971 | Health Risk | Pathogenic | GNPTG-mucolipidosis, GNPTG-mucolipidosis |
| RS137852885 | Health Risk | Pathogenic/Likely pathogenic | GNPTG-mucolipidosis, GNPTG-mucolipidosis |
| RS1555450681 | Health Risk | Pathogenic/Likely pathogenic | GNPTG-mucolipidosis, GNPTG-mucolipidosis |
| RS1555451874 | Health Risk | Pathogenic/Likely pathogenic | GNPTG-mucolipidosis, GNPTG-mucolipidosis |
| RS193302849 | Health Risk | Pathogenic/Likely pathogenic | GNPTG-mucolipidosis, Rod-cone dystrophy, Retinal dystrophy |
| RS2141861740 | Health Risk | Pathogenic/Likely pathogenic | GNPTG-mucolipidosis, GNPTG-mucolipidosis |
| RS2548189890 | Health Risk | Pathogenic/Likely pathogenic | GNPTG-mucolipidosis, GNPTG-mucolipidosis |
| RS376679416 | Health Risk | Pathogenic/Likely pathogenic | GNPTG-mucolipidosis, GNPTG-mucolipidosis, GNPTG-mucolipidosis |