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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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MOCOS
molybdenum cofactor sulfurase
Chromosome 18 Β· 18q12.2
NCBI Gene: 55034Ensembl: ENSG00000075643.7HGNC: HGNC:18234UniProt: Q96EN8
31PubMed Papers
21Diseases
0Drugs
38Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
Mo-molybdopterin cofactor biosynthetic processmolybdenum cofactor sulfurtransferase activityprotein bindingmolybdopterin cofactor metabolic processxanthinuria type IIautism spectrum disorderstricturepathological myopia
✦AI Summary

MOCOS (molybdenum cofactor sulfurase) is an essential enzyme that sulfurates the molybdenum cofactor, a critical process for the activity of xanthine dehydrogenase (XDH) and aldehyde oxidase enzymes 1. The enzyme facilitates sulfation of molybdenum, enabling the cofactor to be liganded by one oxygen and one sulfur atom in its active form 1. MOCOS plays a central role in purine catabolism, where it works coordinately with XDH in the purine degradation pathway 2. Beyond purine metabolism, MOCOS contributes to cellular redox homeostasis and appears important for proper neurodevelopment and synaptic function 3. Pathogenic variants in MOCOS cause xanthinuria type II, a rare autosomal recessive disorder characterized by extremely low serum uric acid levels, hypoxanthine and xanthine accumulation, and predisposition to xanthine kidney stones 4. The enzyme has been implicated in autism spectrum disorders, where downregulation of MOCOS expression in olfactory stem cells correlates with neurotransmission defects and increased oxidative stress sensitivity 3. Additionally, MOCOS variants show associations with psychiatric disorders through sex-dependent genetic effects 5. The gene's disruption can lead to nucleotide imbalances, replication fork stalling, and compromised antioxidant responses 2.

Sources cited
1
MOCOS sulfurates molybdenum cofactor essential for XDH and aldehyde oxidase activity
PMID: 34356852
2
MOCOS works with XDH in purine catabolism and its disruption causes nucleotide imbalances
PMID: 40617554
3
MOCOS downregulation in ASD patients affects neurotransmission and increases oxidative stress sensitivity
PMID: 26239292
4
Pathogenic MOCOS variants cause xanthinuria type II with low uric acid and kidney stones
PMID: 41164817
5
MOCOS variants show sex-dependent genetic effects in psychiatric disorders
PMID: 34099189
Disease Associationsβ“˜21
xanthinuria type IIOpen Targets
0.78Strong
autism spectrum disorderOpen Targets
0.33Weak
strictureOpen Targets
0.28Weak
pathological myopiaOpen Targets
0.21Weak
primary hyperoxaluriaOpen Targets
0.12Weak
hypertriglyceridemia 2Open Targets
0.05Suggestive
familial hypercholesterolemiaOpen Targets
0.05Suggestive
familial juvenile hyperuricemic nephropathy type 1Open Targets
0.05Suggestive
Combined hyperlipidemiaOpen Targets
0.04Suggestive
Dent diseaseOpen Targets
0.04Suggestive
thyroid hormone metabolism, abnormal, 2Open Targets
0.04Suggestive
sitosterolemia 2Open Targets
0.04Suggestive
homozygous familial hypercholesterolemiaOpen Targets
0.04Suggestive
Glycogen storage disease due to glucose-6-phosphatase deficiency type bOpen Targets
0.04Suggestive
Glycogen storage disease due to glucose-6-phosphatase deficiencyOpen Targets
0.04Suggestive
familial idiopathic steroid-resistant nephrotic syndromeOpen Targets
0.04Suggestive
hyperuricemic nephropathy, familial juvenile type 4Open Targets
0.04Suggestive
familial juvenile hyperuricemic nephropathy type 2Open Targets
0.04Suggestive
Hyperuricemia - anemia - renal failureOpen Targets
0.04Suggestive
carnitine palmitoyl transferase II deficiency, myopathic formOpen Targets
0.04Suggestive
Xanthinuria 2UniProt
Pathogenic Variants38
NM_017947.4(MOCOS):c.1088_1089del (p.Leu363fs)Pathogenic
Xanthinuria type II
β˜…β˜…β˜†β˜†2026β†’ Residue 363
NM_017947.4(MOCOS):c.2326C>T (p.Arg776Cys)Pathogenic
Xanthinuria type II|Autism spectrum disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 776
NM_017947.4(MOCOS):c.1634C>A (p.Ser545Ter)Pathogenic
Xanthinuria type II
β˜…β˜…β˜†β˜†2025β†’ Residue 545
NM_017947.4(MOCOS):c.1255C>T (p.Arg419Ter)Pathogenic
Xanthinuria type II
β˜…β˜…β˜†β˜†2025β†’ Residue 419
NM_017947.4(MOCOS):c.124G>T (p.Glu42Ter)Likely pathogenic
Xanthinuria type II
β˜…β˜…β˜†β˜†2024β†’ Residue 42
NM_017947.4(MOCOS):c.2287G>T (p.Glu763Ter)Likely pathogenic
Xanthinuria type II|MOCOS-related disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 763
NM_017947.4(MOCOS):c.232+1G>ALikely pathogenic
Xanthinuria type II
β˜…β˜…β˜†β˜†2024
NM_017947.4(MOCOS):c.1546C>T (p.Gln516Ter)Likely pathogenic
Xanthinuria type II
β˜…β˜…β˜†β˜†2024β†’ Residue 516
NM_017947.4(MOCOS):c.1218+1G>CLikely pathogenic
Xanthinuria type II
β˜…β˜…β˜†β˜†2024
NM_017947.4(MOCOS):c.2164+2T>CLikely pathogenic
Xanthinuria type II
β˜…β˜…β˜†β˜†2023
NM_017947.4(MOCOS):c.1886del (p.Lys629fs)Pathogenic
Xanthinuria type II
β˜…β˜†β˜†β˜†2025β†’ Residue 629
NM_017947.4(MOCOS):c.1203del (p.Ile402fs)Pathogenic
Xanthinuria type II
β˜…β˜†β˜†β˜†2025β†’ Residue 402
NM_017947.4(MOCOS):c.1690C>T (p.Gln564Ter)Pathogenic
Xanthinuria type II
β˜…β˜†β˜†β˜†2025β†’ Residue 564
NM_017947.4(MOCOS):c.230dup (p.Tyr77Ter)Likely pathogenic
Xanthinuria type II
β˜…β˜†β˜†β˜†2024β†’ Residue 77
NM_017947.4(MOCOS):c.143-2A>TLikely pathogenic
Xanthinuria type II
β˜…β˜†β˜†β˜†2024
NM_017947.4(MOCOS):c.1383del (p.Thr462fs)Likely pathogenic
Xanthinuria type II
β˜…β˜†β˜†β˜†2024β†’ Residue 462
NM_017947.4(MOCOS):c.942-1G>TLikely pathogenic
Xanthinuria type II
β˜…β˜†β˜†β˜†2024
NM_017947.4(MOCOS):c.1488G>A (p.Trp496Ter)Likely pathogenic
Xanthinuria type II
β˜…β˜†β˜†β˜†2024β†’ Residue 496
NM_017947.4(MOCOS):c.2356del (p.Ala786fs)Pathogenic
Xanthinuria type II
β˜…β˜†β˜†β˜†2024β†’ Residue 786
NM_017947.4(MOCOS):c.2271-1G>ALikely pathogenic
Xanthinuria type II
β˜…β˜†β˜†β˜†2024
View on ClinVar β†—
Related Genes
MOCS1Shared pathway100%MOCS2Shared pathway100%ISCUProtein interaction100%AOX1Protein interaction98%NFS1Protein interaction92%SCLYProtein interaction87%
Tissue Expression6 tissues
Liver
100%
Ovary
38%
Lung
8%
Heart
2%
Brain
1%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
MOCOSMOCS1MOCS2ISCUAOX1NFS1SCLY
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q96EN8
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.19LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.99 [0.83–1.19]
RankingsWhere MOCOS stands among ~20K protein-coding genes
  • #11,744of 20,598
    Most Researched31
  • #1,605of 5,498
    Most Pathogenic Variants38
  • #12,490of 17,882
    Most Constrained (LOEUF)1.19
Genes detectedMOCOS
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Clinical and genetic analysis of
PMID: 41164817
Front Genet Β· 2025
1.00
2
Sex-Dependent Shared and Nonshared Genetic Architecture Across Mood and Psychotic Disorders.
PMID: 34099189
Biol Psychiatry Β· 2022
0.90
3
Endoplasmic reticulum stress-driven nucleotide catabolism fuels prostate cancer.
PMID: 40617554
Cancer Lett Β· 2025
0.80
4
Hereditary xanthinuria in a goat.
PMID: 30758870
J Vet Intern Med Β· 2019
0.70
5
The rs594445 in MOCOS gene is associated with risk of autism spectrum disorder.
PMID: 31900757
Metab Brain Dis Β· 2020
0.60