Curated summary · agent-written · kb/genes/curated/hgnc_9719.md

All 16 claims checked against the KB draft

PEX5 across dismech

PEX5 (peroxisomal biogenesis factor 5) is named by 4 disorder entries.

Normal function

PEX5 is the cycling cytosolic receptor for matrix proteins carrying the type-1 peroxisomal targeting signal (PTS1); its long isoform, PEX5L, is also the co-receptor that carries PEX7-bound PTS2 cargo. The ai-gene-review record in the pinned ingest has no core functions yet; the upstream review has since been completed, and its core functions will appear here once the ingest is refreshed.

Causative records

Two entries type PEX5 as causative, and both record a germline origin: Peroxisome Biogenesis Disorder 2B; and Rhizomelic Chondrodysplasia Punctata Type 5. They differ in which isoform is hit. Peroxisome Biogenesis Disorder 2B records a partial loss of function on the node Hypomorphic PEX5 Variants with Residual PTS1 Receptor Function. Rhizomelic Chondrodysplasia Punctata Type 5 records a loss of function on Loss of the PEX5 Long Isoform, the long isoform only.

The KB's PEX5 mechanism nodes are annotated with protein targeting to peroxisome; and protein import into peroxisome matrix.

Grouping-level records

The broader entries also name PEX5, including Zellweger Spectrum Disorders; and Peroxisome Biogenesis Disorder, whose genetic records are untyped and untyped respectively. Zellweger Spectrum Disorders places it on PTS Receptor Cargo Recognition Failure.

Where the layers disagree

ClinGen classifies PEX5 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 (P50542, 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
Peroxisome Biogenesis Disorder 2B	causative germline partial loss of function	mechanism: Hypomorphic PEX5 Variants with Residual PTS1 Receptor Function
Rhizomelic Chondrodysplasia Punctata Type 5	causative germline loss of function	mechanism: Loss of the PEX5 Long Isoform
Peroxisome Biogenesis Disorder	untyped Pathogenic Variants	mechanism: Peroxisome Biogenesis Defect
Zellweger Spectrum Disorders	untyped Autosomal recessive causal pathogenic variant. PEX5 is the cytosolic shuttling receptor for peroxisomal targeting signal type 1 cargo and, as the PEX5-PEX7 complex, for type 2 cargo.	mechanism: PTS Receptor Cargo Recognition Failure subtype: PEX5-ZSD scoped to subtype: PEX5-ZSD

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 2020-01-17	Peroxisome Biogenesis Disorder untyped