SUOX gene

sulfite oxidase

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From NCBI Gene:

  • Sulfite oxidase deficiency

From UniProt:

Isolated sulfite oxidase deficiency (ISOD): Characterized by neurological abnormalities including multicystic leukoencephalopathy with brain atrophy. Patients often suffer from seizures. Often leads to death at an early age. [MIM:272300]

Cytogenetic Location: 12q13.2, which is the long (q) arm of chromosome 12 at position 13.2

Molecular Location: base pairs 55,996,776 to 56,005,525 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 12q13.2, which is the long (q) arm of chromosome 12 at position 13.2