3eo3: Difference between revisions

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-[[Image:3eo3.png|left|200px]]
 {{STRUCTURE_3eo3|  PDB=3eo3  |  SCENE=  }}
+===Crystal structure of the N-acetylmannosamine kinase domain of human GNE protein===
+{{ABSTRACT_PUBMED_19841673}}
-===Crystal structure of the N-acetylmannosamine kinase domain of human GNE protein===
+==Disease==
+[[http://www.uniprot.org/uniprot/GLCNE_HUMAN GLCNE_HUMAN]] Defects in GNE are a cause of sialuria (SIALURIA) [MIM:[http://omim.org/entry/269921 269921]]; also known as sialuria French type. In sialuria, free sialic acid accumulates in the cytoplasm and gram quantities of neuraminic acid are secreted in the urine. The metabolic defect involves lack of feedback inhibition of UDP-GlcNAc 2-epimerase by CMP-Neu5Ac, resulting in constitutive overproduction of free Neu5Ac. Clinical features include variable degrees of developmental delay, coarse facial features and hepatomegaly. Sialuria inheritance is autosomal dominant.<ref>PMID:2808337</ref><ref>PMID:10330343</ref><ref>PMID:10356312</ref><ref>PMID:11326336</ref>  Defects in GNE are the cause of inclusion body myopathy type 2 (IBM2) [MIM:[http://omim.org/entry/600737 600737]]. Hereditary inclusion body myopathies are a group of neuromuscular disorders characterized by adult onset, slowly progressive distal and proximal weakness and a typical muscle pathology including rimmed vacuoles and filamentous inclusions. IBM2 is an autosomal recessive disorder affecting mainly leg muscles, but with an unusual distribution that spares the quadriceps as also observed in Nonaka myopathy.<ref>PMID:11528398</ref><ref>PMID:12409274</ref><ref>PMID:12473769</ref><ref>PMID:12473780</ref><ref>PMID:12497639</ref><ref>PMID:12811782</ref><ref>PMID:15146476</ref>  Defects in GNE are the cause of Nonaka myopathy (NM) [MIM:[http://omim.org/entry/605820 605820]]; also known as distal myopathy with rimmed vacuoles (DMRV). NM is an autosomal recessive muscular disorder, allelic to inclusion body myopathy 2. It is characterized by weakness of the anterior compartment of the lower limbs with onset in early adulthood, and sparing of the quadriceps muscles. As the inclusion body myopathy, NM is histologically characterized by the presence of numerous rimmed vacuoles without inflammatory changes in muscle specimens.<ref>PMID:12325084</ref><ref>PMID:11916006</ref><ref>PMID:12177386</ref><ref>PMID:12473753</ref><ref>PMID:12913203</ref>
-{{ABSTRACT_PUBMED_19841673}}
+==Function==
+[[http://www.uniprot.org/uniprot/GLCNE_HUMAN GLCNE_HUMAN]] Regulates and initiates biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. Plays an essential role in early development (By similarity). Required for normal sialylation in hematopoietic cells. Sialylation is implicated in cell adhesion, signal transduction, tumorigenicity and metastatic behavior of malignant cells.<ref>PMID:10334995</ref>
 ==About this Structure==
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 ==Reference==
-<ref group="xtra">PMID:019841673</ref><references group="xtra"/>
+<ref group="xtra">PMID:019841673</ref><references group="xtra"/><references/>
 [[Category: Homo sapiens]]
 [[Category: Arrowsmith, C H.]]