3r9a: Difference between revisions

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~~[[Image:3r9a.png|left|200px]]~~

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===Human alanine-glyoxylate aminotransferase in complex with the TPR domain of human PEX5P===

==Disease==

[[http://www.uniprot.org/uniprot/SPYA_HUMAN SPYA_HUMAN]] Defects in AGXT are the cause of hyperoxaluria primary type 1 (HP1) [MIM:[http://omim.org/entry/259900 259900]]; also known as primary hyperoxaluria type I (PH1) and oxalosis I. HP1 is a rare autosomal recessive inborn error of glyoxylate metabolism characterized by increased excretion of oxalate and glycolate, and the progressive accumulation of insoluble calcium oxalate in the kidney and urinary tract.<ref>PMID:1703535</ref><ref>PMID:2039493</ref><ref>PMID:1349575</ref><ref>PMID:1301173</ref><ref>PMID:8101040</ref><ref>PMID:9192270</ref><ref>PMID:9604803</ref><ref>PMID:10394939</ref><ref>PMID:10453743</ref><ref>PMID:10541294</ref><ref>PMID:10862087</ref><ref>PMID:10960483</ref><ref>PMID:12559847</ref><ref>PMID:12777626</ref><ref>PMID:15253729</ref><ref>PMID:15849466</ref><ref>PMID:15961946</ref><ref>PMID:15963748</ref> [[http://www.uniprot.org/uniprot/PEX5_HUMAN PEX5_HUMAN]] Defects in PEX5 are the cause of peroxisome biogenesis disorder 2A (PBD2A) [MIM:[http://omim.org/entry/214110 214110]]. A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and characterized clinically by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life.<ref>PMID:7719337</ref> Defects in PEX5 are the cause of peroxisome biogenesis disorder 2B (PBD2B) [MIM:[http://omim.org/entry/202370 202370]]. A peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid.

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==Function==

~~The line below this paragraph, {{ABSTRACT_PUBMED_22529745}}, adds the Publication Abstract to the page~~

[[http://www.uniprot.org/uniprot/PEX5_HUMAN PEX5_HUMAN]] Binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import.<ref>PMID:7719337</ref><ref>PMID:7790377</ref><ref>PMID:7706321</ref>

~~(as it appears on PubMed at~~ http://www.~~pubmed~~.~~gov), where 22529745 is~~ the ~~PubMed ID number.~~

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~~{{ABSTRACT_PUBMED_22529745}}~~

==About this Structure==

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Line 13:

==Reference==

[[Category: Homo sapiens]]

[[Category: Fodor, K.]]

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-[[Image:3r9a.png|left|200px]]
-<!--
-The line below this paragraph, containing "STRUCTURE_3r9a", creates the "Structure Box" on the page.
-You may change the PDB parameter (which sets the PDB file loaded into the applet)
-or the SCENE parameter (which sets the initial scene displayed when the page is loaded),
-or leave the SCENE parameter empty for the default display.
--->
 {{STRUCTURE_3r9a|  PDB=3r9a  |  SCENE=  }}
 ===Human alanine-glyoxylate aminotransferase in complex with the TPR domain of human PEX5P===
+{{ABSTRACT_PUBMED_22529745}}
+==Disease==
+[[http://www.uniprot.org/uniprot/SPYA_HUMAN SPYA_HUMAN]] Defects in AGXT are the cause of hyperoxaluria primary type 1 (HP1) [MIM:[http://omim.org/entry/259900 259900]]; also known as primary hyperoxaluria type I (PH1) and oxalosis I. HP1 is a rare autosomal recessive inborn error of glyoxylate metabolism characterized by increased excretion of oxalate and glycolate, and the progressive accumulation of insoluble calcium oxalate in the kidney and urinary tract.<ref>PMID:1703535</ref><ref>PMID:2039493</ref><ref>PMID:1349575</ref><ref>PMID:1301173</ref><ref>PMID:8101040</ref><ref>PMID:9192270</ref><ref>PMID:9604803</ref><ref>PMID:10394939</ref><ref>PMID:10453743</ref><ref>PMID:10541294</ref><ref>PMID:10862087</ref><ref>PMID:10960483</ref><ref>PMID:12559847</ref><ref>PMID:12777626</ref><ref>PMID:15253729</ref><ref>PMID:15849466</ref><ref>PMID:15961946</ref><ref>PMID:15963748</ref> [[http://www.uniprot.org/uniprot/PEX5_HUMAN PEX5_HUMAN]] Defects in PEX5 are the cause of peroxisome biogenesis disorder 2A (PBD2A) [MIM:[http://omim.org/entry/214110 214110]]. A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and characterized clinically by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life.<ref>PMID:7719337</ref>  Defects in PEX5 are the cause of peroxisome biogenesis disorder 2B (PBD2B) [MIM:[http://omim.org/entry/202370 202370]]. A peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid.
-<!--
+==Function==
-The line below this paragraph, {{ABSTRACT_PUBMED_22529745}}, adds the Publication Abstract to the page
+[[http://www.uniprot.org/uniprot/PEX5_HUMAN PEX5_HUMAN]] Binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import.<ref>PMID:7719337</ref><ref>PMID:7790377</ref><ref>PMID:7706321</ref>
-(as it appears on PubMed at http://www.pubmed.gov), where 22529745 is the PubMed ID number.
--->
-{{ABSTRACT_PUBMED_22529745}}
 ==About this Structure==
@@ Line 22: / Line 13: @@
 ==Reference==
-<ref group="xtra">PMID:022529745</ref><references group="xtra"/>
+<ref group="xtra">PMID:022529745</ref><references group="xtra"/><references/>
 [[Category: Homo sapiens]]
 [[Category: Fodor, K.]]