Curated summary · agent-written · kb/genes/curated/hgnc_8860.md

All 15 claims checked against the KB draft

PEX7 across dismech

PEX7 (peroxisomal biogenesis factor 7) is named by 4 disorder entries.

Normal function

PEX7 is the cytosolic receptor for matrix proteins carrying the type-2 peroxisomal targeting signal (PTS2). The ai-gene-review record in the pinned ingest has no core functions yet; the upstream review has since been completed, and its core function will appear here once the ingest is refreshed.

Causative records

Two entries type PEX7 as causative, and both record a germline origin: Rhizomelic Chondrodysplasia Punctata Type 1; and Adult Refsum Disease. In Rhizomelic Chondrodysplasia Punctata Type 1 the gene sits on the node Selective PTS2 Import Failure. In Adult Refsum Disease it sits on PEX7 Peroxisomal Matrix Import Defect and PEX7-Related Plasmalogen Synthesis Defect.

The KB's PEX7 mechanism nodes are annotated with protein targeting to peroxisome; and protein import into peroxisome matrix. Nodes naming PEX7 conform to the module peroxisomal_metabolic_failure.

Grouping-level records

The broader entries also name PEX7, including Zellweger Spectrum Disorders; and Peroxisome Biogenesis Disorder, whose genetic records are untyped and untyped respectively.

Where the layers disagree

ClinGen classifies PEX7 for 1 disease, peroxisome biogenesis disorder as a whole, rated definitive; the dismech entry matched to it that does not type the gene is Peroxisome Biogenesis Disorder.

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 (O00628, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status IN_PROGRESS; 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
Adult Refsum Disease	causative germline	mechanism: PEX7 Peroxisomal Matrix Import Defect; PEX7-Related Plasmalogen Synthesis Defect subtype: Type 2 scoped to subtype: Type 2
Rhizomelic Chondrodysplasia Punctata Type 1	causative germline	mechanism: Selective PTS2 Import Failure
Peroxisome Biogenesis Disorder	untyped Pathogenic Variants	mechanism: Peroxisome Biogenesis Defect
Zellweger Spectrum Disorders	untyped Autosomal recessive causal pathogenic variant. PEX7 is the receptor for peroxisomal targeting signal type 2 cargo. Its severe allelic disorder, rhizomelic chondrodysplasia punctata type 1, is curated as a separate entry; the milder allelic phenotype PBD9B is the form MONDO places on this spectrum.	mechanism: PTS Receptor Cargo Recognition Failure subtype: PBD9B scoped to subtype: PBD9B

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
peroxisome biogenesis disorder MONDO:0019234	AR	Definitive 2020-02-14	Peroxisome Biogenesis Disorder untyped

Mechanism modules · computed from kb/

peroxisomal_metabolic_failure via Rhizomelic Chondrodysplasia Punctata Type 1