Aliases: ODC.
ODC1 (ornithine decarboxylase 1) is named by 2 disorder entries.
In the ingested ai-gene-review snapshot, ODC1's core molecular functions are ornithine decarboxylase activity; protein homodimerization activity; and pyridoxal phosphate binding: the PLP-dependent homodimer decarboxylates ornithine to putrescine, the committed step of polyamine synthesis. The upstream review is being revised to a single ornithine decarboxylase core function acting in putrescine biosynthesis; this page will change when the ingest is refreshed.
Bachmann-Bupp Syndrome types ODC1 causative with a de novo origin and a gain of function impact. The gene sits on the node ODC1 C-Terminal Truncating Variant: truncations remove the antizyme-dependent degradation signal, so the entry marks ornithine decarboxylase activity as increased, the opposite direction to most enzyme disorders.
no genetic record is kept for ODC1 in Fibrolamellar Hepatocellular Carcinoma, which names the gene only on the tumour-metabolism node Ornithine Transcarbamylase Suppression, where ODC is raised in tumour tissue.
ClinGen classifies ODC1 for 0 diseases, and the gene's KB nodes share 0 process terms with ai-gene-review.
Underlined values are claims re-computed from the knowledge base each time this page is built. The tables below are the source of truth.
ai-gene-review has this gene at status INITIALIZED; the description is shown only once the review is complete. Read the draft upstream.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Bachmann-Bupp Syndrome | causative de novo gain of function |
mechanism: Elevated ODC Enzyme Activity; ODC1 C-Terminal Truncating Variant
variant: NM_001287189.1:c.1217A>T (p.Tyr406Phe); NM_002539.3:c.1342A>T (p.Lys448Ter); ODC1 c.1242-2A>G; ODC1 c.1252C>T (p.Gln418Ter); ODC1 c.1307_1311delinsT (p.Thr436IlefsTer11)
|
| Fibrolamellar Hepatocellular Carcinoma | no genetic record |
mechanism: Ornithine Transcarbamylase Suppression
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.