PEX6 - dismech genes

Normal function · from ai-gene-review (Q13608, 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 4A (Zellweger)	causative loss of function	mechanism: Biallelic Null PEX6 Genotype
Perrault Syndrome	causative	mechanism: Biallelic Loss of Mitochondrial Gene-Expression and Proteostasis Factors; Peroxisomal Fatty Acid Beta-Oxidation Failure
Peroxisome Biogenesis Disorder	untyped Pathogenic Variants	mechanism: Peroxisome Biogenesis Defect
Peroxisome Biogenesis Disorder 4B	untyped Biallelic PEX6 pathogenic variants cause the PEX6 complementation group, the second most common genetic cause of Zellweger spectrum disease after PEX1. PBD4B corresponds to the genotypes preserving residual peroxin-6 function. Two features are specific to this locus. First, the c.2578C>T (p.Arg860Trp) allele can act in the heterozygous state when a 3' UTR polyadenylation-site variant produces allelic expression imbalance in its favour, so an apparently dominant pedigree does not exclude PEX6 disease. Second, the same gene's hypomorphic alleles extend below PBD4B to Heimler syndrome 2, the mildest recognized peroxisome biogenesis phenotype.	mechanism: PEX6 Variants with Residual Peroxin-6 Function
Zellweger Spectrum Disorders	untyped Autosomal recessive causal pathogenic variant; PEX6 variants are a recognized cause of Zellweger syndrome, often associated with severe phenotypes when leading to truncation.	mechanism: Receptor Export Module ATPase Failure subtype: PEX6-ZSD scoped to subtype: PEX6-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 2019-09-06	Peroxisome Biogenesis Disorder untyped