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Article

Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH.

Human mutation - 1 Jun 2003

Reiss Jochen, Johnson Jean L

Abstract excerpt

Molybdenum cofactor deficiency in humans results in the loss of the activity of molybdoenzymes sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase. The resultant severe phenotype, which includes progressive neurological damage leading in most cases to early childhood death, results primarily from the deficiency of sulfite oxidase. All forms of molybdenum cofactor deficiency are inherited as autosomal...

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Source

Identifiers

PMID: 12754701
DOI: 10.1002/humu.10223

Genes

MOCS1
MOCS2
MOCS3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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