1. Gene
  2. MOCOS - molybdenum cofactor sulfurase Gene

MOCOS - molybdenum cofactor sulfurase Gene

Homo sapiens

Also known as MCS; MOS; HMCS

Gene ID: 55034 | Gene type: protein coding

About MOCOS

Cytogenetic location: 18q12.2 Genomic coordinates (GRCh38): 18:36,187,497-36,272,157 (from NCBI)

This gene has 2 transcripts (splice variants), 204 orthologues, 2 paralogues and is associated with 2 phenotypes. Broad expression in liver (RPKM 7.8), adrenal (RPKM 7.4) and 18 other tissues.

Summary

This gene encodes an Enzyme that sulfurates the molybdenum cofactor which is required for activation of the xanthine dehydrogenase (XDH) and aldehyde oxidase (AO) enzymes. XDH catalyzes the conversion of hypoxanthine to uric acid via xanthine, as well as the conversion of allopurinol to oxypurinol, and pyrazinamide to 5-hydroxy pyrazinamide. Mutations in this gene cause the metabolic disorder classical xanthinuria type II which is characterized by the loss of XDH/XO and AO Enzyme activity, decreased levels of uric acid in the urine, increased levels of xanthine and hypoxanthine in the serum and urine, formation of xanthine stones in the urinary tract, and myositis due to tissue deposition of xanthine. [provided by RefSeq, Apr 2017]

MOCOS Products(1)

mRNA Protein Name
NM_017947.4 NP_060417.4 molybdenum cofactor sulfurase

MOCOS Protein Structure

Aminotran_5

Aminotran_5: Aminotransferase class-V (50 - 481)

MOSC_N

MOSC_N: MOSC N-terminal beta barrel domain (584 - 701)

MOSC

MOSC: MOSC domain (728 - 865)

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  • 888 a.a.
Protein Preferred Names Protein Names

molybdenum cofactor sulfurase

Related Diseases

Diseases Alias
Xanthinuria, Type Ii

Xanthinuria Type Ii

XAN2

Xdh And Aox Dual Deficiency

Xanthine Dehydrogenase And Aldehyde Oxidase, Combined Deficiency Of

Xanthinuria Type 2

Type 2 Xanthinuria

Type Ii Xanthinuria

Xanthine Dehydrogenase And Aldehyde Oxidase Combined Deficiency Of

Xanthine Dehydrogenase And Xanthine Aldehyde Oxidase Dual Deficiency

Xanthinuria 2

Combined Deficiency Of Xanthine Dehydrogenase And Aldehyde Oxidase

Xanthic Urolithiasis

Xanthinuria

Xanthine Dehydrogenase Deficiency

Xanthine Oxidase Deficiency

Hereditary Xanthinuria

Xanthic Urolithiasis

Xanthine Stone Disease

Xanthinuria, Type I

Combined Deficiency Of Xanthine Dehydrogenase And Aldehyde Oxidase

Xdh Deficiency

Classic Xanthinuria

Xanthinuria, Type Ii

Classical Xanthinuria

Xanthine Calculus

Purine-Pyrimidine Metabolic Disorder

Inborn Errors Of Purine-Pyrimidine Metabolism

Disorder Of Purine Or Pyrimidine Metabolism

Prolidase Deficiency

Hyperimidodipeptiduria

Imidodipeptidase Deficiency

Peptidase Deficiency

PD

Deficiency Of Prolidase

Imidodipeptiduria

Proline Dipeptidase Deficiency

Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

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 MOCOS RGD RGD:1308496
Macaca mulatta MOCOS VGNC VGNC:74792
Canis familiaris MOCOS VGNC VGNC:43305
Felis catus MOCOS VGNC VGNC:63549
Mus musculus MOCOS MGD MGI:1915841
Bos taurus MOCOS VGNC VGNC:31547