SUOX

Chr 12AR

sulfite oxidase

Also known as: HSO

NCBI Gene: 6821 ENSG00000139531 UniProt: P51687 OMIM: 606887

Sulfite oxidase is a mitochondrial enzyme that catalyzes the oxidation of sulfite to sulfate, representing the final step in the degradation of sulfur-containing amino acids cysteine and methionine. Biallelic mutations cause sulfite oxidase deficiency, an autosomal recessive disorder characterized by severe neurological abnormalities that are often fatal in early childhood. The gene shows tolerance to loss-of-function variants (pLI near zero), consistent with its recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

LOFmechanismARLOEUF 1.081 OMIM phenotype

Clinical Summary— SUOX

🧬

Gene-Disease Validity (ClinGen)

isolated sulfite oxidase deficiency · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

⚡

Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Explore recent and relevant literature in Research Assistant →