SUOX

Gene Information
 
Gene Symbol
SUOX
 
Aliases
EC 1.8.3.1
 
Entrez Gene ID
 
Gene Name
Sulfite oxidase
 
Chromosomal Location
12q13.2
 
HGNC ID
 
Summary
Sulfite oxidase is a homodimeric protein localized to the intermembrane space of mitochondria. Each subunit contains a heme domain and a molybdopterin-binding domain. The enzyme catalyzes the oxidation of sulfite to sulfate, the final reaction in the oxidative degradation of the sulfur amino acids cysteine and methionine. Sulfite oxidase deficiency results in neurological abnormalities which are often fatal at an early age. Alternative splicing results in multiple transcript variants encoding identical proteins. [provided by RefSeq, Jul 2008]
 
GeneCards ID
 
UniGene
 
RefSeq DNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0008482 Molecular function Sulfite oxidase activity TAS 9428520
Protein Information
 
Protein Name
Sulfite Oxidase, EC 1.8.3.1
 
Function
Catalytic activity and cofactor binding
 
UniProt
 
PDB
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF00173 Cyt-b5
PF03404 Mo-co_dimer
PF00174 Oxidored_molyb
 
OMIM
 
Phenotype MIM ID

Associated Diseases

Diseases References
Polycystic ovary syndrome (PCOS) 24106282
Sulfite oxidase deficiency 1404882, 2220930, 2265219, 7834040, 8531042, 8605694, 9050047, 9415683, 9541430, 9600976, 9645040, 10519592, 11825068, 11901024, 12001203, 12533804, 15273247, 15664777, 15952210, 16048997, 16140720, 16150492, 16234925, 16475804, 16970890, 17607604, 17940249, 18034293, 19021510
   
References
 
Primary:

Cross-ethnic meta-analysis of genetic variants for polycystic ovary syndrome.

Louwers Yvonne V, Stolk Lisette, Uitterlinden Andre G, Laven Joop S E
MD, Department of Gynecology and Obstetrics, Room Na-1524, Erasmus MC, P.O. Box 2040, 3000 CA Rotterdam, The Netherlands. y.louwers@erasmusmc.nl.
J Clin Endocrinol Metab. 2013 Dec;98(12):E2006-12. doi: 10.1210/jc.2013-2495.
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
LHCGR, THADA, DENND1A, FSHR, c9orf3, YAP1, HMGA2, TOX3, INSR, SUMO1P1 
 
rs705702 
Rotterdam criteria 
Direct 
703 Dutch PCOS patients and 2164 Dutch controls 
This study identifies 12 genetic variants mapping to the Chinese PCOS loci similar effect size and identical direction in PCOS patients from Northern European ancestry, indicating a common genetic risk profile for PCOS across populations 

Unreviewed Literature:

PubMed / PMC ID
Title Type of study
25904635, PMC4498224
Han Chinese polycystic ovary syndrome risk variants in women of European ancestry: relationship to FSH levels and glucose tolerance. 
Clinical study 

 

| © 2015, Biomedical Informatics Centre, NIRRH |
National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400 012
Tel: 91-22-24192104, Fax No: 91-22-24139412