2gk1: Difference between revisions

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~~[[Image:2gk1.png|left|200px]]~~

===X-ray crystal structure of NGT-bound HexA===

===X-~~ray crystal structure~~ of ~~NGT~~-~~bound HexA===~~

==Disease==

[[http://www.uniprot.org/uniprot/HEXA_HUMAN HEXA_HUMAN]] Defects in HEXA are the cause of GM2-gangliosidosis type 1 (GM2G1) [MIM:[http://omim.org/entry/272800 272800]]; also known as Tay-Sachs disease. GM2-gangliosidosis is an autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. GM2G1 is characterized by GM2 gangliosides accumulation in the absence of HEXA activity, leading to neurodegeneration and, in the infantile form, death in early childhood. GM2G1 has an increased incidence among Ashkenazi Jews and French Canadians in eastern Quebec. It exists in several forms: infantile (most common and most severe), juvenile and adult (late onset).<ref>PMID:2970528</ref><ref>PMID:2522679</ref><ref>PMID:2144098</ref><ref>PMID:1837283</ref><ref>PMID:1532289</ref><ref>PMID:1302612</ref><ref>PMID:1301189</ref><ref>PMID:1301190</ref><ref>PMID:8490625</ref><ref>PMID:8445615</ref><ref>PMID:7951261</ref><ref>PMID:7837766</ref><ref>PMID:7717398</ref><ref>PMID:8581357</ref><ref>PMID:7898712</ref><ref>PMID:8757036</ref><ref>PMID:9150157</ref><ref>PMID:9338583</ref><ref>PMID:9375850</ref><ref>PMID:9401008</ref><ref>PMID:9603435</ref><ref>PMID:14566483</ref> [[http://www.uniprot.org/uniprot/HEXB_HUMAN HEXB_HUMAN]] Defects in HEXB are the cause of GM2-gangliosidosis type 2 (GM2G2) [MIM:[http://omim.org/entry/268800 268800]]; also known as Sandhoff disease. GM2-gangliosidosis is an autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. GM2G2 is clinically indistinguishable from GM2-gangliosidosis type 1, presenting startle reactions, early blindness, progressive motor and mental deterioration, macrocephaly and cherry-red spots on the macula.<ref>PMID:1720305</ref><ref>PMID:1531140</ref><ref>PMID:8357844</ref><ref>PMID:7626071</ref><ref>PMID:7557963</ref><ref>PMID:7633435</ref><ref>PMID:8950198</ref><ref>PMID:9401004</ref><ref>PMID:9856491</ref><ref>PMID:9694901</ref>

~~{{ABSTRACT_PUBMED_16698036}}~~

==Function==

[[http://www.uniprot.org/uniprot/HEXA_HUMAN HEXA_HUMAN]] Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues. The form B is active against certain oligosaccharides. The form S has no measurable activity. [[http://www.uniprot.org/uniprot/HEXB_HUMAN HEXB_HUMAN]] Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues.

==About this Structure==

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==Reference==

[[Category: Beta-N-acetylhexosaminidase]]

[[Category: Homo sapiens]]

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-[[Image:2gk1.png|left|200px]]
 {{STRUCTURE_2gk1|  PDB=2gk1  |  SCENE=  }}
+===X-ray crystal structure of NGT-bound HexA===
+{{ABSTRACT_PUBMED_16698036}}
-===X-ray crystal structure of NGT-bound HexA===
+==Disease==
+[[http://www.uniprot.org/uniprot/HEXA_HUMAN HEXA_HUMAN]] Defects in HEXA are the cause of GM2-gangliosidosis type 1 (GM2G1) [MIM:[http://omim.org/entry/272800 272800]]; also known as Tay-Sachs disease. GM2-gangliosidosis is an autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. GM2G1 is characterized by GM2 gangliosides accumulation in the absence of HEXA activity, leading to neurodegeneration and, in the infantile form, death in early childhood. GM2G1 has an increased incidence among Ashkenazi Jews and French Canadians in eastern Quebec. It exists in several forms: infantile (most common and most severe), juvenile and adult (late onset).<ref>PMID:2970528</ref><ref>PMID:2522679</ref><ref>PMID:2144098</ref><ref>PMID:1837283</ref><ref>PMID:1532289</ref><ref>PMID:1302612</ref><ref>PMID:1301189</ref><ref>PMID:1301190</ref><ref>PMID:8490625</ref><ref>PMID:8445615</ref><ref>PMID:7951261</ref><ref>PMID:7837766</ref><ref>PMID:7717398</ref><ref>PMID:8581357</ref><ref>PMID:7898712</ref><ref>PMID:8757036</ref><ref>PMID:9150157</ref><ref>PMID:9338583</ref><ref>PMID:9375850</ref><ref>PMID:9401008</ref><ref>PMID:9603435</ref><ref>PMID:14566483</ref> [[http://www.uniprot.org/uniprot/HEXB_HUMAN HEXB_HUMAN]] Defects in HEXB are the cause of GM2-gangliosidosis type 2 (GM2G2) [MIM:[http://omim.org/entry/268800 268800]]; also known as Sandhoff disease. GM2-gangliosidosis is an autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. GM2G2 is clinically indistinguishable from GM2-gangliosidosis type 1, presenting startle reactions, early blindness, progressive motor and mental deterioration, macrocephaly and cherry-red spots on the macula.<ref>PMID:1720305</ref><ref>PMID:1531140</ref><ref>PMID:8357844</ref><ref>PMID:7626071</ref><ref>PMID:7557963</ref><ref>PMID:7633435</ref><ref>PMID:8950198</ref><ref>PMID:9401004</ref><ref>PMID:9856491</ref><ref>PMID:9694901</ref>
-{{ABSTRACT_PUBMED_16698036}}
+==Function==
+[[http://www.uniprot.org/uniprot/HEXA_HUMAN HEXA_HUMAN]] Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues. The form B is active against certain oligosaccharides. The form S has no measurable activity. [[http://www.uniprot.org/uniprot/HEXB_HUMAN HEXB_HUMAN]] Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues.
 ==About this Structure==
@@ Line 14: / Line 16: @@
 ==Reference==
-<ref group="xtra">PMID:016698036</ref><references group="xtra"/>
+<ref group="xtra">PMID:016698036</ref><references group="xtra"/><references/>
 [[Category: Beta-N-acetylhexosaminidase]]
 [[Category: Homo sapiens]]