3s4y: Difference between revisions
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{{STRUCTURE_3s4y| PDB=3s4y | SCENE= }} | {{STRUCTURE_3s4y| PDB=3s4y | SCENE= }} | ||
===Crystal structure of human thiamin pyrophosphokinase 1=== | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/TPK1_HUMAN TPK1_HUMAN]] Childhood encephalopathy due to thiamine pyrophosphokinase deficiency. Thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type (THMD5) [MIM:[http://omim.org/entry/614458 614458]]: An autosomal recessive metabolic disorder due to an inborn error of thiamine metabolism. The phenotype is highly variable, but in general, affected individuals have onset in early childhood of acute encephalopathic episodes associated with increased serum and CSF lactate. These episodes result in progressive neurologic dysfunction manifest as gait disturbances, ataxia, dystonia, and spasticity, which in some cases may result in loss of ability to walk. Cognitive function is usually preserved, although mildly delayed development has been reported. These episodes are usually associated with infection and metabolic decompensation. Some patients may have recovery of some neurologic deficits. Note=The disease is caused by mutations affecting the gene represented in this entry.<ref>PMID:22152682</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/TPK1_HUMAN TPK1_HUMAN]] Catalyzes the phosphorylation of thiamine to thiamine pyrophosphate. Can also catalyze the phosphorylation of pyrithiamine to pyrithiamine pyrophosphate.<ref>PMID:11342111</ref> | |||
==About this Structure== | ==About this Structure== | ||
[[3s4y]] is a 2 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3S4Y OCA]. | [[3s4y]] is a 2 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3S4Y OCA]. | ||
==Reference== | |||
<references group="xtra"/><references/> | |||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Thiamine diphosphokinase]] | [[Category: Thiamine diphosphokinase]] | ||
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[[Category: Walker, J R.]] | [[Category: Walker, J R.]] | ||
[[Category: Weigelt, J.]] | [[Category: Weigelt, J.]] | ||
[[Category: Kinase]] | |||
[[Category: Sgc]] | |||
[[Category: Structural genomic]] | |||
[[Category: Structural genomics consortium]] | |||
[[Category: Transferase]] | |||