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Article

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

American journal of human genetics - 1 Mar 1999

Reiss J, Dorche C, Stallmeyer B, Mendel R R, Cohen N, Zabot M T

Abstract excerpt

Biosynthesis of the molybdenum cofactor (MoCo) can be divided into (1) the formation of a precursor and (2) the latter's subsequent conversion, by molybdopterin synthase, into the organic moiety of MoCo. These two steps are reflected by the complementation groups A and B and the two formally distinguished types of MoCo deficiency that have an identical phenotype. Both types of MoCo deficiency result in a...

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Source

Open in PubMed Open full text

Identifiers

PMID: 10053004
DOI: 10.1086/302296
PMCID: PMC1377787

Genes

MOCS2
MOCS1

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.

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Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B.PMID 10053004Read ↗

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