PEX19

Chr 1AR

peroxisomal biogenesis factor 19

Also known as: D1S2223E, HK33, PBD12A, PMP1, PMPI, PXF, PXMP1

NCBI Gene: 5824 ENSG00000162735 UniProt: P40855 OMIM: 600279

PEX19 encodes a cytosolic chaperone and import receptor that is essential for importing peroxisomal membrane proteins and early peroxisomal biogenesis. Mutations cause Zellweger syndrome and other peroxisome biogenesis disorders through an autosomal recessive inheritance pattern, resulting in defective import of peroxisomal matrix proteins and multiple peroxisomal dysfunction. These disorders are characterized as lethal conditions with multiple organ system involvement due to the failure of peroxisome assembly and function.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene is necessary for early peroxisomal biogenesis. It acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. These disorders have at least 14 complementation groups, with more than one phenotype being observed for some complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS), as well as peroxisome biogenesis disorder complementation group 14 (PBD-CG14), which is also known as PBD-CGJ. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Peroxisome biogenesis disorder 12A (Zellweger)MIM #614886

Clinical highlights

Gene-disease validity (ClinGen)

peroxisome biogenesis disorder · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.94

LOEUF

LOF

Mechanism· G2P

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