GNPTG (N-acetylglucosamine-1-phosphate transferase subunit gamma)

2010-04-01  

Identity

HGNC
LOCATION
16p13.3
LOCUSID
ALIAS
C16orf27,GNPTAG,LP2537,RJD9
FUSION GENES

Other Information

Locus ID:

NCBI: 84572
MIM: 607838
HGNC: 23026
Ensembl: ENSG00000090581

Variants:

dbSNP: 84572
ClinVar: 84572
TCGA: ENSG00000090581
COSMIC: GNPTG

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000090581ENST00000204679Q9UJJ9
ENSG00000090581ENST00000526820E9PQQ5
ENSG00000090581ENST00000527137A0A087WWA2
ENSG00000090581ENST00000527876E9PQQ5
ENSG00000090581ENST00000529110H0YEA7

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
LysosomeKEGGko04142
LysosomeKEGGhsa04142

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
201477092010Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering.48
199551742010Functions of the alpha, beta, and gamma subunits of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase.28
193707642009Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma.11
196597622009Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations.11
261304852016Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes.11
243161252014Three novel homozygous mutations in the GNPTG gene that cause mucolipidosis type III gamma.10
197081282009Compensatory expression of human N-acetylglucosaminyl-1-phosphotransferase subunits in mucolipidosis type III gamma.9
200340962010Loss of N-acetylglucosamine-1-phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: Implications for molecular and cellular diagnostics.8
228849632012A role for inherited metabolic deficits in persistent developmental stuttering.6
263856382015Subunit interactions of the disease-related hexameric GlcNAc-1-phosphotransferase complex.5

Citation

Dessen P

GNPTG (N-acetylglucosamine-1-phosphate transferase subunit gamma)

Atlas Genet Cytogenet Oncol Haematol. 2010-04-01

Online version: http://atlasgeneticsoncology.org/gene/51438/gnptg