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2byl
From Proteopedia
(Difference between revisions)
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{{STRUCTURE_2byl| PDB=2byl | SCENE= }} | {{STRUCTURE_2byl| PDB=2byl | SCENE= }} | ||
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===Structure of ornithine aminotransferase triple mutant Y85I Y55A G320F=== | ===Structure of ornithine aminotransferase triple mutant Y85I Y55A G320F=== | ||
| + | {{ABSTRACT_PUBMED_16096275}} | ||
| - | + | ==Disease== | |
| + | [[http://www.uniprot.org/uniprot/OAT_HUMAN OAT_HUMAN]] Defects in OAT are the cause of hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:[http://omim.org/entry/258870 258870]]. HOGA is a slowly progressive blinding autosomal recessive disorder.<ref>PMID:3375240</ref><ref>PMID:2793865</ref><ref>PMID:1612597</ref><ref>PMID:1737786</ref><ref>PMID:7887415</ref><ref>PMID:7668253</ref> | ||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
| - | <ref group="xtra">PMID:016096275</ref><references group="xtra"/> | + | <ref group="xtra">PMID:016096275</ref><references group="xtra"/><references/> |
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Ornithine aminotransferase]] | [[Category: Ornithine aminotransferase]] | ||
Revision as of 21:17, 24 March 2013
Contents |
Structure of ornithine aminotransferase triple mutant Y85I Y55A G320F
Template:ABSTRACT PUBMED 16096275
Disease
[OAT_HUMAN] Defects in OAT are the cause of hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]. HOGA is a slowly progressive blinding autosomal recessive disorder.[1][2][3][4][5][6]
About this Structure
2byl is a 3 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
- Markova M, Peneff C, Hewlins MJ, Schirmer T, John RA. Determinants of substrate specificity in omega-aminotransferases. J Biol Chem. 2005 Oct 28;280(43):36409-16. Epub 2005 Aug 11. PMID:16096275 doi:10.1074/jbc.M506977200
- ↑ Ramesh V, McClatchey AI, Ramesh N, Benoit LA, Berson EL, Shih VE, Gusella JF. Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy. Proc Natl Acad Sci U S A. 1988 Jun;85(11):3777-80. PMID:3375240
- ↑ Inana G, Chambers C, Hotta Y, Inouye L, Filpula D, Pulford S, Shiono T. Point mutation affecting processing of the ornithine aminotransferase precursor protein in gyrate atrophy. J Biol Chem. 1989 Oct 15;264(29):17432-6. PMID:2793865
- ↑ Michaud J, Brody LC, Steel G, Fontaine G, Martin LS, Valle D, Mitchell G. Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene. Genomics. 1992 Jun;13(2):389-94. PMID:1612597
- ↑ Brody LC, Mitchell GA, Obie C, Michaud J, Steel G, Fontaine G, Robert MF, Sipila I, Kaiser-Kupfer M, Valle D. Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences. J Biol Chem. 1992 Feb 15;267(5):3302-7. PMID:1737786
- ↑ Michaud J, Thompson GN, Brody LC, Steel G, Obie C, Fontaine G, Schappert K, Keith CG, Valle D, Mitchell GA. Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V. Am J Hum Genet. 1995 Mar;56(3):616-22. PMID:7887415
- ↑ Kobayashi T, Ogawa H, Kasahara M, Shiozawa Z, Matsuzawa T. A single amino acid substitution within the mature sequence of ornithine aminotransferase obstructs mitochondrial entry of the precursor. Am J Hum Genet. 1995 Aug;57(2):284-91. PMID:7668253
