PEX12

Chr 17AR

peroxisomal biogenesis factor 12

Also known as: PAF-3, PBD3A

NCBI Gene: 5193 ENSG00000108733 UniProt: O00623 OMIM: 601758

PEX12 encodes a peroxisome membrane protein essential for the assembly of functional peroxisomes and the import of peroxisomal matrix proteins into the organelle. Mutations cause autosomal recessive peroxisome biogenesis disorders including Zellweger syndrome (PBD3A) and PBD3B, which are lethal conditions characterized by multiple defects in peroxisome function. The pathogenic mechanism involves defective import of peroxisomal matrix proteins due to impaired peroxisome assembly.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene belongs to the peroxin-12 family. 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. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular 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). [provided by RefSeq, Oct 2008]

OMIM ResearchGenerating clinical summary…

LOFmechanismARLOEUF 1.852 OMIM phenotypes

Clinical Summary— PEX12

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Gene-Disease Validity (ClinGen)

peroxisome biogenesis disorder · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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