Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutation of human molybdenum cofactor sulfurase gene is responsible for classical xanthinuria type II.

Biochemical and biophysical research communications - 20 Apr 2001

Ichida K, Matsumura T, Sakuma R, Hosoya T, Nishino T

Abstract excerpt

Drosophila ma-l gene was suggested to encode an enzyme for sulfuration of the desulfo molybdenum cofactor for xanthine dehydrogenase (XDH) and aldehyde oxidase (AO). The human molybdenum cofactor sulfurase (HMCS) gene, the human ma-l homologue, is therefore a candidate gene responsible for classical xanthinuria type II, which involves both XDH and AO deficiencies. However, HMCS has not been identified as yet. In...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Coenzymes
Share to Metalloproteins
Share to Molybdenum Cofactors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Pteridines

Share to Purine-Pyrimidine Metabolism, Inborn Errors

Share to Sulfurtransferases

Share to Xanthine Dehydrogenase

Share to Xanthines

Source

Identifiers

PMID: 11302742
DOI: 10.1006/bbrc.2001.4719

Genes

XDH
CGA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation of human molybdenum cofactor sulfurase gene is responsible for classical xanthinuria type II.PMID 11302742Read ↗

Identification and characterization of the first mutation (Arg776Cys) in the C-terminal domain of the Human Molybdenum Cofactor Sulfurase (HMCS) associated with type II classical xanthinuria.Semantic proximity Read ↗

Using Next-Generation Sequencing to Identify a Mutation in Human MCSU that is Responsible for Type II Xanthinuria.Semantic proximity Read ↗

Deletion Mutation in Drosophila ma-l Homologous, Putative Molybdopterin Cofactor Sulfurase Gene Is Associated with Bovine Xanthinuria Type IISemantic proximity Read ↗

Mutations associated with functional disorder of xanthine oxidoreductase and hereditary xanthinuria in humans.Semantic proximity Read ↗

Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH.Semantic proximity Read ↗

Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene.Semantic proximity Read ↗

Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B.Semantic proximity Read ↗

XDH gene mutation is the underlying cause of classical xanthinuria: a second report.Semantic proximity Read ↗

Molecular Cloning and Characterization of the Human Xanthine Dehydrogenase Gene (XDH)Semantic proximity Read ↗

Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2.Semantic proximity Read ↗

Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria.Semantic proximity Read ↗

A novel mutation in xanthine dehydrogenase in a case with xanthinuria in Hunan province of China.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.