1. Gene
  2. SQOR - sulfide quinone oxidoreductase Gene

SQOR - sulfide quinone oxidoreductase Gene

Homo sapiens

Also known as SQR; SQRDL; CGI-44; PRO1975

Gene ID: 58472 | Gene type: protein coding

About SQOR

Cytogenetic location: 15q21.1 Genomic coordinates (GRCh38): 15:45,631,148-45,691,281 (from NCBI)

This gene has 8 transcripts (splice variants), 222 orthologues and is associated with 1 phenotype. Broad expression in colon (RPKM 63.6), esophagus (RPKM 32.6) and 21 other tissues.

Summary

The protein encoded by this gene may function in mitochondria to catalyze the conversion of sulfide to persulfides, thereby decreasing toxic concencrations of sulfide. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2012]

SQOR Products(2)

mRNA Protein Name
NM_001271213.2 NP_001258142.1 sulfide:quinone oxidoreductase, mitochondrial
NM_021199.4 NP_067022.1 sulfide:quinone oxidoreductase, mitochondrial

SQOR Protein Structure

Pyr_redox_2

Pyr_redox_2: Pyridine nucleotide-disulphide oxidoreductase (46 - 339)

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Protein Preferred Names Protein Names

sulfide:quinone oxidoreductase, mitochondrial

sulfide dehydrogenase like

Related Diseases

Diseases Alias
Sulfide:Quinone Oxidoreductase Deficiency

SQORD

Sulfide Quinone Oxidoreductase Deficiency

Encephalopathy, Ethylmalonic

Ethylmalonic Encephalopathy

EE

Epema Syndrome

Encephalopathy, Petechiae, And Ethylmalonic Aciduria

Ethe1 Deficiency

Eme

Syndrome Of Encephalopathy, Petechiae, And Ethylmalonic Aciduria

Cystathioninuria

Cystathionase Deficiency

Gamma-Cystathionase Deficiency

Cystathione Gamma-Lyase Deficiency Syndrome

Cystathionine Gamma-Lyase Deficiency Syndrome

CSTNU

Leigh Syndrome

Leigh Disease

Infantile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency

LS

Sne

Leigh'S Disease

Leigh Syndrome Due To Mitochondrial Complex I Deficiency

Necrotizing Encephalopathy, Infantile Subacute, Of Leigh

Subacute Necrotizing Encephalomyelopathy

Necrotizing Encephalopathy Infantile Subacute Of Leigh

Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency

Infantile Necrotizing Encephalomyelopathy

Juvenile Subacute Necrotizing Encephalomyelopathy

Leigh'S Necrotizing Encephalopathy

Subacute Necrotizing Encephalopathy

Juvenile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency

Leigh Syndrome Due To Mitochondrial Complex V Deficiency

Encephalopathy, Subacute Necrotizing, Infantile

Encephalopathy, Subacute Necrotizing, Juvenile

Maternally Inherited Leigh Syndrome

Subacute Necrotising Encephalomyelopathy

Subacute Necrotising Encephalopathy

Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

Interstitial Nephritis, Karyomegalic

Karyomegalic Interstitial Nephritis

KMIN

Kin

Systemic Karyomegaly

Karyomegalic Tubulointerstitial Nephritis

Ktn

Leber Congenital Amaurosis 1

LCA1

Amaurosis Congenita Of Leber I

Lca

Retinal Blindness, Congenital

Crb

Leber Congenital Amaurosis Type I

Leber Congenital Amaurosis, Type 1

Amaurosis Congenita Of Leber, Type 1

Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus SQOR RGD RGD:1564504
Bos taurus SQOR VGNC VGNC:101453
Macaca mulatta SQOR VGNC VGNC:99244
Mus musculus SQOR MGD MGI:1929899
Felis catus SQOR VGNC VGNC:101465
Canis familiaris SQOR VGNC VGNC:101445