ODC1

Chr 2

ornithine decarboxylase 1

Also known as: BABS, NEDBA, NEDBIA, ODC

NCBI Gene: 4953 ENSG00000115758 UniProt: P11926

This protein catalyzes the rate-limiting step in polyamine biosynthesis, converting ornithine to putrescine, which is essential for cell proliferation and DNA replication. Mutations cause Bachmann-Bupp syndrome, an autosomal dominant condition affecting neurodevelopment and growth. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.543), and detailed clinical information is available in GeneReviews.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes the rate-limiting enzyme of the polyamine biosynthesis pathway which catalyzes ornithine to putrescine. The activity level for the enzyme varies in response to growth-promoting stimuli and exhibits a high turnover rate in comparison to other mammalian proteins. Originally localized to both chromosomes 2 and 7, the gene encoding this enzyme has been determined to be located on 2p25, with a pseudogene located on 7q31-qter. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Dec 2013]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtBachmann-Bupp syndrome

Clinical highlights

Interpreting a novel variant

Gain of function is the curated mechanism (Gene2Phenotype), so a variant that simply removes the protein may not be the pathogenic class here — missense variants in functional domains often carry more weight.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.54

LOEUF

GOF

Mechanism· G2P

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