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Article

Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2.

Human mutation - 1 Jan 2011

Reiss Jochen, Hahnewald Rita

Abstract excerpt

All molybdenum-containing enzymes other than the bacterial nitrogenase share an identical molybdenum cofactor (MoCo), which is synthesized via a conserved pathway in all organisms and therefore also is called "universal molybdenum cofactor." In humans, four molybdoenzymes are known: aldehyde oxid...

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Source

Identifiers

PMID: 21031595
DOI: 10.1002/humu.21390

Genes

GPHN
MOCS1
MOCS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21031595-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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