Gene: SUOX
Alternate names for this Gene: -
Gene 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.
Gene is located in Chromosome: 12
Location in Chromosome : 12q13.2
Description of this Gene: sulfite oxidase
Type of Gene: protein-coding
rs1689510 in
SUOX gene and
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.
rs1689510 in
SUOX gene and
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.
rs1689510 in
SUOX gene and
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.
rs1689510 in
SUOX gene and
Ankylosing spondylitis
PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.
rs1689510 in
SUOX gene and
Autoimmune Diseases
PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.
rs1689510 in
SUOX gene and
Autoimmune thyroiditis
PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.
rs1689510 in
SUOX gene and
Celiac Disease
PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.
rs1689510 in
SUOX gene and
Common Variable Immunodeficiency
PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.
rs1689510 in
SUOX gene and
Crohn Disease
PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.
rs1689510 in
SUOX gene and
Diabetes Mellitus, Insulin-Dependent
PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.
rs1689510 in
SUOX gene and
Forced expiratory volume function
PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.
rs1689510 in
SUOX gene and
Juvenile arthritis
PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.
rs1689510 in
SUOX gene and
Lupus Erythematosus, Systemic
PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.
rs1689510 in
SUOX gene and
Psoriasis
PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.
rs1689510 in
SUOX gene and
Respiratory Tract Diseases
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs773125 in
SUOX gene and
Rheumatoid Arthritis
PMID 24390342 2014 Genetics of rheumatoid arthritis contributes to biology and drug discovery.
PMID 30423114 2019 Genetic influences on susceptibility to rheumatoid arthritis in African-Americans.
rs121908007 in
SUOX gene and
Sulfocysteinuria
PMID 9600976 1998 Human sulfite oxidase R160Q: identification of the mutation in a sulfite oxidase-deficient patient and expression and characterization of the mutant enzyme.
PMID 10519592 1999 Isolated sulfite oxidase deficiency: review of two cases in one family.
PMID 12368985 2002 A novel mutation in neonatal isolated sulphite oxidase deficiency.
PMID 12112661 2002 Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients.
PMID 9428520 1997 Molecular basis of sulfite oxidase deficiency from the structure of sulfite oxidase.
PMID 24938149 2014 Prenatal multicystic encephalopathy in isolated sulfite oxidase deficiency with a novel mutaion.
PMID 23994568 2013 Microarray analysis unmasked paternal uniparental disomy of chromosome 12 in a patient with isolated sulfite oxidase deficiency.
PMID 28629418 2017 Prenatal brain disruption in isolated sulfite oxidase deficiency.
PMID 15952210 2005 Total truncation of the molybdopterin/dimerization domains of SUOX protein in an Arab family with isolated sulfite oxidase deficiency.
rs1689510 in
SUOX gene and
Ulcerative Colitis
PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.