GNPTAB Chromosome 12
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
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What This Gene Does
This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.[provided by RefSeq, May 2010]
Gene Info
Gene Group
EF-hand domain containing
Locus Type
gene with protein product
Location
12q23.2
Ensembl
ENSG00000111670
Associated Conditions (13)
Mucolipidosis type II
Pseudo-Hurler polydystrophy
GNPTAB-related disorder
Inborn genetic diseases
Mucolipidosis
Abnormality of metabolism/homeostasis
GNPTAB-mucolipidosis
Mucolipidosis III alpha/beta
atypical
Mucopolysaccharidosis
MPS-III-A
Legg-Calve-Perthes disease
Juvenile osteochondrosis of spine
Key Variants
RS111863978
Conflicting classifications of pathogenicity
Mucolipidosis type II, Pseudo-Hurler polydystrophy, GNPTAB-related disorder
Health Risk
RS112543062
Conflicting classifications of pathogenicity
Mucolipidosis type II, Pseudo-Hurler polydystrophy, Mucolipidosis type II
Health Risk
RS1185319004
Conflicting classifications of pathogenicity
Mucolipidosis type II, Pseudo-Hurler polydystrophy, Mucolipidosis type II
Health Risk
RS1297022622
Conflicting classifications of pathogenicity
Mucolipidosis type II, Pseudo-Hurler polydystrophy, Mucolipidosis type II
Health Risk
RS138811990
Conflicting classifications of pathogenicity
Mucolipidosis type II, Pseudo-Hurler polydystrophy, GNPTAB-related disorder
Health Risk
RS141222937
Conflicting classifications of pathogenicity
Mucolipidosis type II, Pseudo-Hurler polydystrophy, Inborn genetic diseases
Health Risk
RS141329633
Conflicting classifications of pathogenicity
Mucolipidosis type II, Pseudo-Hurler polydystrophy, Mucolipidosis type II
Health Risk
RS141529327
Conflicting classifications of pathogenicity
Pseudo-Hurler polydystrophy, Mucolipidosis type II, GNPTAB-related disorder
Health Risk
RS141927805
Conflicting classifications of pathogenicity
Pseudo-Hurler polydystrophy, Mucolipidosis type II, Pseudo-Hurler polydystrophy
Health Risk
RS142302101
Conflicting classifications of pathogenicity
Mucolipidosis type II, Pseudo-Hurler polydystrophy, Inborn genetic diseases
Health Risk
RS143788461
Conflicting classifications of pathogenicity
Mucolipidosis type II, Pseudo-Hurler polydystrophy, Mucolipidosis
Health Risk
RS143907628
Conflicting classifications of pathogenicity
Mucolipidosis type II, Pseudo-Hurler polydystrophy, Inborn genetic diseases
Health Risk
All Variants (415)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2547957527 | Health Risk | Pathogenic/Likely pathogenic | Mucolipidosis type II, Pseudo-Hurler polydystrophy, Mucolipidosis type II |
| RS2547958737 | Health Risk | Pathogenic/Likely pathogenic | Mucolipidosis type II, Pseudo-Hurler polydystrophy, Mucolipidosis type II |
| RS2547958752 | Health Risk | Pathogenic/Likely pathogenic | Mucolipidosis type II, Pseudo-Hurler polydystrophy, Mucolipidosis type II |
| RS2547961354 | Health Risk | Pathogenic/Likely pathogenic | Mucolipidosis type II, Pseudo-Hurler polydystrophy, Mucolipidosis type II |
| RS281864954 | Health Risk | Pathogenic/Likely pathogenic | Mucolipidosis type II, Pseudo-Hurler polydystrophy, Mucolipidosis |
| RS281864963 | Health Risk | Pathogenic/Likely pathogenic | Mucolipidosis type II, Pseudo-Hurler polydystrophy, Mucolipidosis type II |
| RS281864964 | Health Risk | Pathogenic/Likely pathogenic | Mucolipidosis type II, Mucolipidosis, Pseudo-Hurler polydystrophy |
| RS281864980 | Health Risk | Pathogenic/Likely pathogenic | Pseudo-Hurler polydystrophy, Legg-Calve-Perthes disease, Juvenile osteochondrosis of spine |
| RS281865023 | Health Risk | Pathogenic/Likely pathogenic | Mucolipidosis type II, Pseudo-Hurler polydystrophy, Mucolipidosis type II |
| RS34946266 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-A, Mucolipidosis type II |
| RS757574720 | Health Risk | Pathogenic/Likely pathogenic | Mucolipidosis type II, Pseudo-Hurler polydystrophy, Mucolipidosis type II |
| RS769587233 | Health Risk | Pathogenic/Likely pathogenic | Mucolipidosis type II, Pseudo-Hurler polydystrophy, Mucolipidosis |
| RS779927550 | Health Risk | Pathogenic/Likely pathogenic | Mucolipidosis type II, Pseudo-Hurler polydystrophy, Mucolipidosis |
| RS781689303 | Health Risk | Pathogenic/Likely pathogenic | Mucolipidosis, Mucolipidosis type II, Pseudo-Hurler polydystrophy |
| RS923732649 | Health Risk | Pathogenic/Likely pathogenic | Mucolipidosis, Mucolipidosis type II, Pseudo-Hurler polydystrophy |