UDP- N- acetylglucosamine- lysosomal- enzyme- N- acetylglucosaminephosphotransferase

fibroblasts from patients with I-cell (mucolipidosis II) & pseudo-Hurler polydystrophy (mucolipidosis III) are deficient in above enzyme; for N-acetylglucosamine transferred to dolichyl phosphate see EC 2.7.8.15

Also Known As:

N-AGAPT; N-acetylglucosamine-1-phosphotransferase; UDP-N-acetylglucosamine-lysosomal glycoprotein N-acetylglucosaminylphosphotransferase; UDP-acetylglucosamine-glycoprotein N-acetylglucosamine-1-phosphotransferase; UDPGNAC GP GNAC phosphotransferase; UDPGNAC phosphotransferase; uridine 5'-diphosphate-N-acetylglucosamine glycoprotein N-acetylglucosaminylphosphotransferase

Networked: 38 relevant articles (0 outcomes, 0 trials/studies)

Bio-Agent Context: Research Results

Enzymes and Coenzymes: 1
- Enzymes: 152586
  - Transferases: 6589
    - Phosphotransferases: 42769
      - Transferases (Other Substituted Phosphate Groups)
        UDP-N-acetylglucosamine-lysosomal-enzyme-N-acetylglucosaminephosphotransferase: 38

Experts

1.	Braulke, Thomas: 4 articles (07/2011 - 09/2005)
2.	Jin, Dong-Kyu: 3 articles (11/2018 - 04/2016)
3.	Sakai, Norio: 3 articles (05/2016 - 03/2009)
4.	Cho, Sung Yoon: 2 articles (11/2018 - 04/2016)
5.	Kwak, Min Jung: 2 articles (11/2018 - 04/2016)
6.	Park, Hyung-Doo: 2 articles (11/2018 - 01/2017)
7.	Sohn, Young Bae: 2 articles (01/2017 - 04/2016)
8.	Nanba, Eiji: 2 articles (05/2016 - 12/2009)
9.	Liu, Shuang: 2 articles (01/2016 - 02/2014)
10.	Qiu, Zhengqing: 2 articles (01/2016 - 02/2014)

Related Diseases

1.	Mucolipidoses (Sialidosis) 01/01/2016 - "Mucolipidosis II and III alpha/beta are autosomal recessive diseases caused by mutations in the GNPTAB gene which encodes the α and β subunits of the N-acetylglucosamine-1-phosphotransferase. " 02/10/2014 - "Mucolipidosis type III gamma (MLIII gamma) is an autosomal recessive disease caused by a mutation in the GNPTG gene, which encodes the γ subunit of the N-acetylglucosamine-1-phosphotransferase (GlcNAc-1-phosphotransferase). " 01/01/2010 - "Loss of N-acetylglucosamine-1-phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: Implications for molecular and cellular diagnostics." 12/01/2009 - "Mucolipidosis II and III are progressive lysosomal storage disorders caused by a deficiency of N-acetylglucosamine-1-phosphotransferase, leading to massive accumulation of undigested substrates in lysosomes (inclusion bodies) in skin fibroblast. " 03/01/2008 - "Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population."
2.	Lysosomal Storage Diseases (Lysosomal Storage Disease) 01/01/2022 - "ML II and III alpha/beta are rare autosomal-recessive lysosomal storage diseases that are attributed to GNPTAB variants that cause N-acetylglucosamine-1-phosphotransferase deficiency, finally leading to multiple clinical signs and symptoms. " 01/01/2019 - "Mucolipidosis type II (ML-II, I-cell disease) is a fatal inherited lysosomal storage disease caused by a deficiency of the enzyme N-acetylglucosamine-1-phosphotransferase. " 09/01/2003 - "Mucolipidosis II (ML II), also called I-cell disease, is a unique lysosomal storage disease caused by deficient activity of the enzyme N-acetylglucosamine-1-phosphotransferase, which leads to a failure to internalize enzymes into lysosomes. " 12/01/1985 - "The primary genetic defect in the lysosomal storage disease mucolipidosis III (ML III) is in the enzyme uridine diphospho-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase. " 03/01/2015 - "Mucolipidosis II and III alpha/beta (ML II/III alpha/beta) are rare autosomal recessive lysosomal storage diseases that are caused by a deficiency of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase, the enzyme responsible for the synthesis of the mannose 6-phosphate targeting signal on lysosomal hydrolases. "
3.	Inborn Genetic Diseases (Disease, Hereditary) 01/01/2023 - "Congenital disorders of glycosylation (CDG) are a series of relatively uncommon genetic disorders, and variants in the dolichyl-phosphate N-acetylglucosamine-1-phosphotransferase (DPAGT1) gene can cause DPAGT1-CDG, which is characterized by multisystem abnormalities: failure to thrive, psychomotor retardation, seizures, etc. PATIENTS: Two fetuses in a nonconsanguineous family recurrently presented with irregular skull morphology, micrognathia, adduction and supination by prenatal ultrasound. " 11/01/1993 - "Mucolipidosis II (ML II, I-cell disease) and mucolipidosis III (ML III, pseudo-Hurler polydystrophy) are human autosomal recessive genetic disorders resulting from deficient UDP-N-acetylglucosamine:lysosomal enzyme precursor N-acetylglucosamine-1-phosphotransferase (GNPT) activity. " 03/01/2003 - "The cause of this rare autosomal recessive hereditary disease is the deficiency of the enzyme N-acetylglucosamine-1-phosphotransferase, required for the synthesis of mannose-6-phosphate, the ligand that allows the transport of acid hydrolases into lysosomes. " 09/01/2011 - "Mucolipidosis II (ML II alpha/beta), or I-cell disease, is a rare genetic disease in which activity of the uridine diphosphate (UDP)-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase (GlcNAc-phosphotransferase) is absent. "
4.	Congenital Disorders of Glycosylation 01/01/2023 - "Congenital disorders of glycosylation (CDG) are a series of relatively uncommon genetic disorders, and variants in the dolichyl-phosphate N-acetylglucosamine-1-phosphotransferase (DPAGT1) gene can cause DPAGT1-CDG, which is characterized by multisystem abnormalities: failure to thrive, psychomotor retardation, seizures, etc. PATIENTS: Two fetuses in a nonconsanguineous family recurrently presented with irregular skull morphology, micrognathia, adduction and supination by prenatal ultrasound. "
5.	Seizures (Absence Seizure) 01/01/2023 - "Congenital disorders of glycosylation (CDG) are a series of relatively uncommon genetic disorders, and variants in the dolichyl-phosphate N-acetylglucosamine-1-phosphotransferase (DPAGT1) gene can cause DPAGT1-CDG, which is characterized by multisystem abnormalities: failure to thrive, psychomotor retardation, seizures, etc. PATIENTS: Two fetuses in a nonconsanguineous family recurrently presented with irregular skull morphology, micrognathia, adduction and supination by prenatal ultrasound. "

Related Drugs and Biologics

1.	Enzymes
2.	Uridine Diphosphate (UDP)
3.	mutalipocin II
4.	Acetylglucosamine
5.	Phosphotransferases (Kinase)
6.	Mannose (D-Mannose)
7.	Hydrolases
8.	mannose-6-phosphate
9.	Acids
10.	Uridine Diphosphate N-Acetylglucosamine