Biomaterial Database

The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis. 1991

D J Mahuran

Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada.

UI	MeSH Term	Description	Entries
D007527	Isoenzymes	Structurally related forms of an enzyme. Each isoenzyme has the same mechanism and classification, but differs in its chemical, physical, or immunological characteristics.	Alloenzyme,Allozyme,Isoenzyme,Isozyme,Isozymes,Alloenzymes,Allozymes
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D005678	G(M2) Ganglioside	A glycosphingolipid that accumulates due to a deficiency of hexosaminidase A or B (BETA-N-ACETYLHEXOSAMINIDASES), or GM2 activator protein, resulting in GANGLIOSIDOSES, heredity metabolic disorders that include TAY-SACHS DISEASE and SANDHOFF DISEASE.	GM2 Ganglioside,Tay-Sachs Disease Ganglioside,Ganglioside GM2,GM2, Ganglioside,Ganglioside, GM2,Ganglioside, Tay-Sachs Disease,Tay Sachs Disease Ganglioside
D005796	Genes	A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.	Cistron,Gene,Genetic Materials,Cistrons,Genetic Material,Material, Genetic,Materials, Genetic
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001619	beta-N-Acetylhexosaminidases	A hexosaminidase specific for non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides. It acts on GLUCOSIDES; GALACTOSIDES; and several OLIGOSACCHARIDES. Two specific mammalian isoenzymes of beta-N-acetylhexoaminidase are referred to as HEXOSAMINIDASE A and HEXOSAMINIDASE B. Deficiency of the type A isoenzyme causes TAY-SACHS DISEASE, while deficiency of both A and B isozymes causes SANDHOFF DISEASE. The enzyme has also been used as a tumor marker to distinguish between malignant and benign disease.	beta-N-Acetylhexosaminidase,N-Acetyl-beta-D-hexosaminidase,beta-Hexosaminidase,beta-N-Acetyl-D-hexosaminidase,beta-N-Acetyl-hexosaminidase,N Acetyl beta D hexosaminidase,beta Hexosaminidase,beta N Acetyl D hexosaminidase,beta N Acetyl hexosaminidase,beta N Acetylhexosaminidase,beta N Acetylhexosaminidases
D001692	Biological Transport	The movement of materials (including biochemical substances and drugs) through a biological system at the cellular level. The transport can be across cell membranes and epithelial layers. It also can occur within intracellular compartments and extracellular compartments.	Transport, Biological,Biologic Transport,Transport, Biologic
D012323	RNA Processing, Post-Transcriptional	Post-transcriptional biological modification of messenger, transfer, or ribosomal RNAs or their precursors. It includes cleavage, methylation, thiolation, isopentenylation, pseudouridine formation, conformational changes, and association with ribosomal protein.	Post-Transcriptional RNA Modification,RNA Processing,Post-Transcriptional RNA Processing,Posttranscriptional RNA Processing,RNA Processing, Post Transcriptional,RNA Processing, Posttranscriptional,Modification, Post-Transcriptional RNA,Modifications, Post-Transcriptional RNA,Post Transcriptional RNA Modification,Post Transcriptional RNA Processing,Post-Transcriptional RNA Modifications,Processing, Posttranscriptional RNA,Processing, RNA,RNA Modification, Post-Transcriptional,RNA Modifications, Post-Transcriptional
D012497	Sandhoff Disease	An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOSIDE in neurons and other tissues. It is caused by mutation in the common beta subunit of HEXOSAMINIDASE A and HEXOSAMINIDASE B. Thus this disease is also known as the O variant since both hexosaminidase A and B are missing. Clinically, it is indistinguishable from TAY-SACHS DISEASE.	G(M2) Gangliosidosis, Type II,Gangliosidosis G(M2), Type II,Hexosaminidase A and B Deficiency Disease,Adult Sandhoff Disease,Deficiency Disease, Hexosaminidase A and B,GM2 Gangliosidosis, Type 2,GM2 Gangliosidosis, Type II,GM2-Gangliosidosis, Type II,Gangliosidosis GM2, Type II,Hexosaminidases A And B Deficiency,Infantile Sandhoff Disease,Juvenile Sandhoff Disease,Sandhoff Disease, Adult,Sandhoff Disease, Adult Type,Sandhoff Disease, Infantile,Sandhoff Disease, Infantile Type,Sandhoff Disease, Juvenile,Sandhoff Disease, Juvenile Type,Sandhoff's Disease,Sandhoff-Jatzkewitz-Pilz Disease,Total Hexosaminidase Deficiency,beta-Hexosaminidase-beta-Subunit Deficiency,Deficiency, Total Hexosaminidase,Deficiency, beta-Hexosaminidase-beta-Subunit,Disease, Sandhoff-Jatzkewitz-Pilz,GM2-Gangliosidoses, Type II,Hexosaminidase Deficiency, Total,Sandhoff Jatzkewitz Pilz Disease,Sandhoffs Disease,Total Hexosaminidase Deficiencies,Type II GM2-Gangliosidoses,Type II GM2-Gangliosidosis,beta Hexosaminidase beta Subunit Deficiency,beta-Hexosaminidase-beta-Subunit Deficiencies
D013661	Tay-Sachs Disease	An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response, followed by paralysis, dementia, and blindness. It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry.	G(M2) Gangliosidosis, Type I,Gangliosidosis G(M2), Type I,Gangliosidosis GM2, B Variant,Hexosaminidase A Deficiency Disease,Tay-Sachs Disease, B Variant,Amaurotic Familial Idiocy,B Variant GM2 Gangliosidosis,B Variant GM2-Gangliosidosis,Deficiency Disease Hexosaminidase A,Familial Amaurotic Idiocy,GM2 Gangliosidosis, B Variant,GM2 Gangliosidosis, Type 1,GM2 Gangliosidosis, Type I,GM2-Gangliosidosis, Type I,Gangliosidosis GM2 , Type 1,Gangliosidosis GM2, Type I,HexA Deficiency,Hexosaminidase A Deficiency,Hexosaminidase alpha-Subunit Deficiency (Variant B),Sphingolipidosis, Tay-Sachs,Amaurotic Idiocy, Familial,B Variant GM2-Gangliosidoses,Deficiency, Hexosaminidase A,Deficiency, Hexosaminidase alpha-Subunit (Variant B),GM2-Gangliosidosis, B Variant,Hexosaminidase alpha Subunit Deficiency (Variant B),Sphingolipidosis, Tay Sachs,Tay Sachs Disease,Tay Sachs Disease, B Variant,Tay-Sachs Sphingolipidosis,Type I GM2-Gangliosidosis