Sulfite Oxidase

Alternative Names

  • SUOX

Associated Diseases

Sulfocysteinuria
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OMIM Number

606887

NCBI Gene ID

6821

Uniprot ID

P51687

Length

14,095 bases

No. of Exons

8

No. of isoforms

1

Protein Name

Sulfite Oxidase, Mitochondrial

Molecular Mass

60283 Da

Amino Acid Count

545

Genomic Location

chr12:55,992,546-56,005,524

Gene Map Locus
12q13.2

Description

The SUOX gene maps to chromosome 12q13.2, where it encodes a mitochondrial enzyme called sulfite oxidase. This protein comprises of 545 amino acids protein and weighs about 60 kDa. The enzyme is a metalloenzyme localized to the intermembrane space of mitochondria that uses a molybdopterin cofactor and a heme group to oxidize sulfite to sulfate, the final step in the degradation of sulfur-containing amino acids and environmental sulfites.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000456.2:c.1233_1234delSudanchr12:56004622-56004623PathogenicPathogenicSulfocysteinuriaNG_008136.1:g.12364_12365del; NM_000456.2:c.1233_1234del; NP_000447.2:p.Val412ArgfsTer3
NM_000456.3:c.520delSaudi Arabiachr12:56003909PathogenicPathogenicSulfocysteinuriaNG_008136.1:g.11651del; NM_000456.3:c.520del; NP_001027558.1:p.Asp174fs1565798380619592
NM_001032386.2:c.650G>AUnited Arab EmiratesNC_000012.12:g.56004039G>ALikely PathogenicPathogenicSulfocysteinuriaNG_008136.1:g.11781G>A; NM_001032386.2:c.650G>A; NP_001027558.1:p.Arg217Gln1219080073820
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