GM2 activator deficiency

GM2 gangliosidosis, AB variant.

Medical dictionary. 2011.

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  • 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

  • hexosaminidase activator deficiency — GM2 gangliosidosis, AB variant …   Medical dictionary

  • 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

  • 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

  • Hexosaminidase — β N acetylhexosaminidase Hexosaminidase A (Hex A) Identifiers EC number …   Wikipedia

  • 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

  • Tay-Sachs disease — Infobox Disease Name = Tay Sachs disease Caption = DiseasesDB = 12916 ICD10 = ICD10|E|75|0|e|70 ICD9 = ICD9|330.1 ICDO = OMIM = 272800 OMIM mult = OMIM2|272750 MedlinePlus = 001417 eMedicineSubj = ped eMedicineTopic = 3016 MeshID = D013661 Tay… …   Wikipedia

  • Prosaposin — PDB rendering based on 1m12 …   Wikipedia

  • HEXB — Hexosaminidase B (beta polypeptide), also known as HEXB, is a human gene.cite web | title = Entrez Gene: HEXB hexosaminidase B (beta polypeptide)| url = Cmd=ShowDetailView TermToSearch=3074|… …   Wikipedia

  • 5-я хромосома человека — Идиограмма 5 й хромосомы человека 5 я хромосома человека  одна из 23 человеческих хромосом. Хромосома содержит около 181 млн пар оснований[1], ч …   Википедия

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