1mj4 | pdb_00001mj4

Crystal Structure Analysis of the cytochrome b5 domain of human sulfite oxidase

Structural highlights

1mj4 is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance.
Method:	X-ray diffraction, Resolution 1.2Å
Ligands:	GOL, HEM, SO4
Resources:	FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT

Disease

SUOX_HUMAN Defects in SUOX are the cause of isolated sulfite oxidase deficiency (ISOD) [MIM:272300; also known as sulfocysteinuria. ISOD is characterized by neurological abnormalities including multicystic leukoencephalopathy with brain atrophy. Patients often suffer from seizures. Often leads to death at an early age.^[1] ^[2] ^[3] ^[4] ^[5]

Function

SUOX_HUMAN

Evolutionary Conservation

Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.

References

↑ Kisker C, Schindelin H, Pacheco A, Wehbi WA, Garrett RM, Rajagopalan KV, Enemark JH, Rees DC. Molecular basis of sulfite oxidase deficiency from the structure of sulfite oxidase. Cell. 1997 Dec 26;91(7):973-83. PMID:9428520
↑ Garrett RM, Johnson JL, Graf TN, Feigenbaum A, Rajagopalan KV. Human sulfite oxidase R160Q: identification of the mutation in a sulfite oxidase-deficient patient and expression and characterization of the mutant enzyme. Proc Natl Acad Sci U S A. 1998 May 26;95(11):6394-8. PMID:9600976
↑ Edwards MC, Johnson JL, Marriage B, Graf TN, Coyne KE, Rajagopalan KV, MacDonald IM. Isolated sulfite oxidase deficiency: review of two cases in one family. Ophthalmology. 1999 Oct;106(10):1957-61. PMID:10519592 doi:S0161-6420(99)90408-6
↑ Johnson JL, Coyne KE, Garrett RM, Zabot MT, Dorche C, Kisker C, Rajagopalan KV. Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients. Hum Mutat. 2002 Jul;20(1):74. PMID:12112661 doi:10.1002/humu.9038
↑ Lee HF, Mak BS, Chi CS, Tsai CR, Chen CH, Shu SG. A novel mutation in neonatal isolated sulphite oxidase deficiency. Neuropediatrics. 2002 Aug;33(4):174-9. PMID:12368985 doi:10.1055/s-2002-34491

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OCA

[1] Kisker C, Schindelin H, Pacheco A, Wehbi WA, Garrett RM, Rajagopalan KV, Enemark JH, Rees DC. Molecular basis of sulfite oxidase deficiency from the structure of sulfite oxidase. Cell. 1997 Dec 26;91(7):973-83. PMID:9428520

[2] Garrett RM, Johnson JL, Graf TN, Feigenbaum A, Rajagopalan KV. Human sulfite oxidase R160Q: identification of the mutation in a sulfite oxidase-deficient patient and expression and characterization of the mutant enzyme. Proc Natl Acad Sci U S A. 1998 May 26;95(11):6394-8. PMID:9600976

[3] Edwards MC, Johnson JL, Marriage B, Graf TN, Coyne KE, Rajagopalan KV, MacDonald IM. Isolated sulfite oxidase deficiency: review of two cases in one family. Ophthalmology. 1999 Oct;106(10):1957-61. PMID:10519592 doi:S0161-6420(99)90408-6

[4] Johnson JL, Coyne KE, Garrett RM, Zabot MT, Dorche C, Kisker C, Rajagopalan KV. Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients. Hum Mutat. 2002 Jul;20(1):74. PMID:12112661 doi:10.1002/humu.9038

[5] Lee HF, Mak BS, Chi CS, Tsai CR, Chen CH, Shu SG. A novel mutation in neonatal isolated sulphite oxidase deficiency. Neuropediatrics. 2002 Aug;33(4):174-9. PMID:12368985 doi:10.1055/s-2002-34491

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1mj4 | pdb_00001mj4

Crystal Structure Analysis of the cytochrome b5 domain of human sulfite oxidase

Structural highlights

Disease

Function

Evolutionary Conservation

See Also

References

Contents

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