G(M2) Activator Protein

An essential cofactor for the degradation of G(M2)GANGLIOSIDE by lysosomal BETA-N-ACETYLHEXOSAMINIDASES. Genetic mutations resulting in loss of G(M2) activator protein are one of the causes of TAY-SACHS DISEASE, AB VARIANT.

Also Known As:

Networked: 30 relevant articles (0 outcomes, 1 trials/studies)

Bio-Agent Context: Research Results

Experts

1.	Biberoğlu, Gürsel: 1 article (06/2021)
2.	Cengiz Ergin, Filiz Başak: 1 article (06/2021)
3.	Ezgü, Fatih Süheyl: 1 article (06/2021)
4.	Okur, İlyas: 1 article (06/2021)
5.	Tümer, Leyla: 1 article (06/2021)
6.	İnci, Aslı: 1 article (06/2021)
7.	Jakmunee, Jaroon: 1 article (04/2021)
8.	Kuntamung, Kulrisa: 1 article (04/2021)
9.	Ounnunkad, Kontad: 1 article (04/2021)
10.	Sangthong, Padchanee: 1 article (04/2021)

Related Diseases

1.	Necrotizing Enterocolitis 07/01/2015 - "The aim of the present study was to investigate the association of neonatal necrotizing enterocolitis (NEC) with myeloid differentiation-(MD-2) and GM2 activator protein (GM2A) genetic polymorphisms. " 07/01/2015 - "Association of neonatal necrotizing enterocolitis with myeloid differentiation-2 and GM2 activator protein genetic polymorphisms." 08/07/2009 - "Here, we report that a small, highly stable, lysosomal lipid transport protein, the GM2 activator protein (GM2AP) is able to inhibit the inflammatory processes otherwise initiated by PAF in a rat model of necrotizing enterocolitis. "
2.	GM2 Gangliosidoses (GM2 Gangliosidosis) 06/25/2021 - "GM2 activator protein deficiency is an ultra-rare form of GM2 gangliosidosis. " 11/01/2005 - "Mutation of the GM2 activator protein in a feline model of GM2 gangliosidosis." 07/01/1999 - "Deficiency of the GM2 activator protein, encoded by GM2A, results in the rare AB-variant form of GM2 gangliosidosis. " 01/01/1998 - "[GM2 activator protein deficiency (AB variant form of GM2 gangliosidosis)]." 05/01/1992 - "A Cys138-to-Arg substitution in the GM2 activator protein is associated with the AB variant form of GM2 gangliosidosis."
3.	AB Variant Tay-Sachs Disease 12/01/1994 - "Mutations in the human GM2 activator protein gene (GM2A) result in the GM2 gangliosidosis AB variant, a severe neurological disease. " 04/01/2017 - "GM2 gangliosidosis, AB variant, is a very rare form of GM2 gangliosidosis due to a deficiency of GM2 activator protein. " 01/01/2016 - "GM2-gangliosidosis, AB variant is a very rare form of GM2 gangliosidosis due to a deficiency of GM2 activator protein, associated with autosomal recessive mutations in GM2A. " 05/24/2023 - "AB-variant GM2 gangliosidosis (ABGM2) arises from loss-of-function mutations in the GM2 activator protein (GM2AP), which is essential for the breakdown of GM2 in a key catabolic pathway required for CNS lipid homeostasis. " 07/17/1989 - "Availability of the cDNA clone should facilitate investigation into function of the GM2 activator protein and also into genetic abnormalities underlying GM2 gangliosidosis AB variant."
4.	Tay-Sachs Disease 02/01/1997 - "Mutations in the human gene coding for the GM2 activator protein cause the AB variant of GM2-gangliosidosis, a condition that is clinically indistinguishable from Tay-Sachs disease. " 02/01/1997 - "Mutations in the human gene coding for the GM2 activator protein cause the AB variant of GM2-gangliosidosis, a condition that is clinically indistinguishable from Tay-Sachs disease. " 07/01/1994 - "Tay-Sachs disease, Sandhoff disease and the GM2 activator protein deficiency. " 02/01/2012 - "Between May 1997 and January 2010, 73 individuals with GM2 gangliosidoses were reported: 40 with Tay-Sachs disease, 31 with Sandhoff disease, and two with GM2 activator protein deficiency. " 12/01/1995 - "Three forms of this disease, Tay-Sachs disease, Sandhoff disease, and GM2 activator deficiency, have been recognized according to whether the defect involves the alpha subunit, beta subunit, or GM2 activator protein, respectively. "
5.	Sandhoff Disease (Sandhoff's Disease) 07/01/1994 - "Tay-Sachs disease, Sandhoff disease and the GM2 activator protein deficiency. " 02/01/2012 - "Between May 1997 and January 2010, 73 individuals with GM2 gangliosidoses were reported: 40 with Tay-Sachs disease, 31 with Sandhoff disease, and two with GM2 activator protein deficiency. " 12/01/1995 - "Three forms of this disease, Tay-Sachs disease, Sandhoff disease, and GM2 activator deficiency, have been recognized according to whether the defect involves the alpha subunit, beta subunit, or GM2 activator protein, respectively. " 11/01/2016 - "Children with phenotypic presentation as GM2 gangliosidosis (Tay-Sachs or Sandhoff disease) and normal enzyme activity of β-hexosaminidase-A and -B in leucocytes need to be investigated for GM2 activator protein deficiency."

Related Drugs and Biologics

1.	Hexosaminidase A (Hex A)
2.	G(M2) Ganglioside (Ganglioside GM2)
3.	Hexosaminidases (Hexosaminidase)
4.	Hexosaminidase B
5.	Lipids
6.	Enzymes
7.	Complementary DNA (cDNA)
8.	Biomarkers (Surrogate Marker)
9.	Taurocholic Acid (Sodium Taurocholate)
10.	Polyethyleneimine