Curated summary · agent-written · kb/genes/curated/hgnc_30260.md

All 11 claims checked against the KB draft

PNPO across dismech

PNPO (pyridoxamine 5'-phosphate oxidase) is named by 1 disorder entry, PNPO Deficiency.

Normal function

ai-gene-review gives PNPO's core molecular functions as pyridoxamine phosphate oxidase activity; and FMN binding. PNPO is the FMN-dependent oxidase that converts pyridoxine 5'-phosphate and pyridoxamine 5'-phosphate to pyridoxal 5'-phosphate (PLP), the active form of vitamin B6. The pinned ingest snapshot carries no core process term for PNPO (0); the upstream review is being updated to add PLP biosynthesis and a cytosolic location.

Causative record

PNPO Deficiency types PNPO as causative, with a germline variant origin, and places it on the node PNPO Deficiency. ClinGen rates the relationship definitive.

Where the layers meet

The KB node is annotated with a molecular function rather than a process, so the KB and ai-gene-review share 0 GO process terms. The molecular function the entry marks as decreased, pyridoxamine phosphate oxidase activity, is the gene review's core function.

Underlined values are claims re-computed from the knowledge base each time this page is built. The tables below are the source of truth.

Normal function · from ai-gene-review (Q9NVS9, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status INITIALIZED; the description is shown only once the review is complete. Read the draft upstream.

In the knowledge base · computed from kb/ at build time

Disorders

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
PNPO Deficiency	causative germline CLINGEN: definitive	mechanism: PNPO Deficiency

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
pyridoxal phosphate-responsive seizures MONDO:0012407	AR	Definitive 2020-12-15	PNPO Deficiency causative