GenTIGSA Gene Database on Rare Genetic Disorders

Sulfite oxidase (SUOX) Associated conditions:  1. Sulfite oxidase deficiency 
mRNA Information: Transcript Variants and Protein Isoforms
SNo. Status mRNA accession Protein accession Genomic DNA accession (Chromosome) mRNA location on genomic DNA Assembly UniProtkb ID
1 REVIEWED NM_000456.3 NP_000447.2 NC_000012.12 (55997275..56005524) Reference GRCh38.p14 Primary Assembly -
2 REVIEWED NM_001032386.2 NP_001027558.1 NC_000012.12 (55997275..56005524) Reference GRCh38.p14 Primary Assembly -
3 REVIEWED NM_001032387.2 NP_001027559.1 NC_000012.12 (55997275..56005524) Reference GRCh38.p14 Primary Assembly -

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)
Link 159 reference articles

Variant Information Sulfite oxidase (SUOXMutation Visualization Dashboard: Pathogenic variant distribution chart
ClinVar variants:Revealing mutagenic patterns

GO Term of Sulfite oxidase (SUOX)
SNo. Reported in speceis Evidence Qualifier GO term Category Pubmed Link
1Homo sapiensIPIenablesprotein bindingFunction25910212 32296183 
2Homo sapiensHTPlocated_inmitochondrionComponent34800366 
3Homo sapiensIBAis_active_inmitochondrionComponent
4Homo sapiensIEAlocated_inmitochondrial intermembrane spaceComponent
5Homo sapiensTASlocated_inmitochondrial matrixComponent
6Homo sapiensIBAinvolved_insulfur compound metabolic processProcess
7Homo sapiensIEAinvolved_insulfur compound metabolic processProcess
8Homo sapiensIBAenablessulfite oxidase activityFunction
9Homo sapiensIEAenablessulfite oxidase activityFunction
10Homo sapiensTASenablessulfite oxidase activityFunction9428520 
11Homo sapiensIEAenablesoxidoreductase activityFunction
12Homo sapiensIBAenablesheme bindingFunction
13Homo sapiensIEAenablesheme bindingFunction
14Homo sapiensIEAenablesmolybdenum ion bindingFunction
15Homo sapiensIBAenablesmolybdopterin cofactor bindingFunction
16Homo sapiensIEAenablesmolybdopterin cofactor bindingFunction
17Homo sapiensIEAenablesmetal ion bindingFunction