2q4r: Difference between revisions

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~~[[Image:2q4r.png|left|200px]]~~

===Ensemble refinement of the protein crystal structure of human phosphomannomutase 2 (PMM2)===

===~~Ensemble refinement~~ of ~~the protein crystal structure~~ of ~~human phosphomannomutase 2~~ (~~PMM2~~)~~===~~

==Disease==

[[http://www.uniprot.org/uniprot/PMM2_HUMAN PMM2_HUMAN]] Defects in PMM2 are the cause of congenital disorder of glycosylation type 1A (CDG1A) [MIM:[http://omim.org/entry/212065 212065]]; also known as carbohydrate-deficient glycoprotein syndrome type Ia (CDGS1A) or Jaeken syndrome. Congenital disorders of glycosylation are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. They are characterized by under-glycosylated serum glycoproteins. CDG1A is an autosomal recessive disorder characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, and pronounced psychomotor retardation, as well as peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa. Patients show a peculiar distribution of subcutaneous fat, nipple retraction, and hypogonadism.<ref>PMID:9140401</ref><ref>PMID:9497260</ref><ref>PMID:9781039</ref><ref>PMID:10066032</ref><ref>PMID:10602363</ref><ref>PMID:10571956</ref><ref>PMID:11058895</ref><ref>PMID:11058896</ref><ref>PMID:10801058</ref><ref>PMID:11350185</ref><ref>PMID:12357336</ref><ref>PMID:15844218</ref><ref>PMID:17307006</ref>

~~{{ABSTRACT_PUBMED_17850744}}~~

==Function==

[[http://www.uniprot.org/uniprot/PMM2_HUMAN PMM2_HUMAN]] Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions (By similarity).

==About this Structure==

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==Reference==

[[Category: Homo sapiens]]

[[Category: Phosphomannomutase]]

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@@ Line 1: / Line 1: @@
-[[Image:2q4r.png|left|200px]]
 {{STRUCTURE_2q4r|  PDB=2q4r  |  SCENE=  }}
+===Ensemble refinement of the protein crystal structure of human phosphomannomutase 2 (PMM2)===
+{{ABSTRACT_PUBMED_17850744}}
-===Ensemble refinement of the protein crystal structure of human phosphomannomutase 2 (PMM2)===
+==Disease==
+[[http://www.uniprot.org/uniprot/PMM2_HUMAN PMM2_HUMAN]] Defects in PMM2 are the cause of congenital disorder of glycosylation type 1A (CDG1A) [MIM:[http://omim.org/entry/212065 212065]]; also known as carbohydrate-deficient glycoprotein syndrome type Ia (CDGS1A) or Jaeken syndrome. Congenital disorders of glycosylation are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. They are characterized by under-glycosylated serum glycoproteins. CDG1A is an autosomal recessive disorder characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, and pronounced psychomotor retardation, as well as peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa. Patients show a peculiar distribution of subcutaneous fat, nipple retraction, and hypogonadism.<ref>PMID:9140401</ref><ref>PMID:9497260</ref><ref>PMID:9781039</ref><ref>PMID:10066032</ref><ref>PMID:10602363</ref><ref>PMID:10571956</ref><ref>PMID:11058895</ref><ref>PMID:11058896</ref><ref>PMID:10801058</ref><ref>PMID:11350185</ref><ref>PMID:12357336</ref><ref>PMID:15844218</ref><ref>PMID:17307006</ref>
-{{ABSTRACT_PUBMED_17850744}}
+==Function==
+[[http://www.uniprot.org/uniprot/PMM2_HUMAN PMM2_HUMAN]] Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions (By similarity).
 ==About this Structure==
@@ Line 14: / Line 16: @@
 ==Reference==
-<ref group="xtra">PMID:017850744</ref><references group="xtra"/>
+<ref group="xtra">PMID:017850744</ref><references group="xtra"/><references/>
 [[Category: Homo sapiens]]
 [[Category: Phosphomannomutase]]