PEX19

peroxisomal biogenesis factor 19

3 disorders 2 untyped 1 causative 1q23.2 gene with protein product

HGNC:9713 Monarch NCBI Gene 5824 ENSG00000162735 UniProt P40855 OMIM 600279

Previous symbols: PXF. Aliases: HK33, D1S2223E, PMP1, PMPI, PXMP1.

Normal function · from ai-gene-review (P40855, 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
Peroxisome Biogenesis Disorder 12A (Zellweger)	causative germline	mechanism: Biallelic PEX19 Loss of Function
Peroxisome Biogenesis Disorder	untyped Pathogenic Variants
Zellweger Spectrum Disorders	untyped Autosomal recessive causal pathogenic variant. PEX19 is common to both routes of peroxisomal membrane protein insertion, the PEX3-dependent class I pathway and the PEX16-dependent class II pathway.	mechanism: Peroxisomal Membrane Assembly Failure subtype: PEX19-ZSD scoped to subtype: PEX19-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 2023-04-27	Peroxisome Biogenesis Disorder untyped

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.