- hexosaminidase activator deficiency
- GM2 gangliosidosis, AB variant.
Medical dictionary. 2011.
hexosaminidase activator deficiency
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Hexosaminidase — β N acetylhexosaminidase Hexosaminidase A (Hex A) Identifiers EC number 3.2.1.52 … Wikipedia
GM2 activator protein — a sphingolipid activator protein that binds GM2 ganglioside and related glycosphingolipids and presents them to hexosaminidase A for cleavage; it is necessary for enzyme activity. Deficiency results in GM2 gangliosidosis, AB variant … Medical dictionary
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GM2A — GM2 ganglioside activator, also known as GM2A, is a human gene. PBB Summary section title = summary text = The protein encoded by this gene is a small glycolipid transport protein which acts as a substrate specific co factor for the lysosomal… … Wikipedia
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gangliosidosis — Any disease characterized, in part, by the abnormal accumulation within the nervous system of specific gangliosides, e.g., GM2 g., Tay Sachs disease, caused by hexosaminidase A enzyme deficiency with accumulation of GM2 ganglioside. SYN … Medical dictionary
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Chromosome 5 (human) — Chromosome 5 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 5 spans about 181 million base pairs (the building blocks of DNA) and represents almost 6% of the total DNA in cells.… … Wikipedia
GM2 gangliosidosis — any of a group of lysosomal storage diseases characterized by abnormal accumulation of ganglioside GM2 and related glycoconjugates, due to deficiency of activity of one or more hexosaminidase isozymes or of an activator protein necessary for… … Medical dictionary
