PEX1

peroxisomal biogenesis factor 1

3 disorders 3 untyped 7q21.2 gene with protein product

HGNC:8850 Monarch NCBI Gene 5189 ENSG00000127980 UniProt O43933 OMIM 602136

Previous symbols: ZWS1, ZWS.

Normal function · from ai-gene-review (O43933, 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	untyped Pathogenic Variants	mechanism: Peroxisome Biogenesis Defect
Peroxisome Biogenesis Disorder 1B	untyped Biallelic PEX1 pathogenic variants cause the whole PEX1 complementation group (CG1); PBD1B specifically requires at least one allele that preserves residual peroxin-1 protein and function. PEX1 is the most common cause of Zellweger spectrum disease overall. The two commonest alleles, the hypomorphic missense c.2528G>A (p.Gly843Asp) and the null frameshift c.2097insT (p.Ile700TyrfsX42), together account for the great majority of abnormal PEX1 alleles, and their combination determines where a patient falls on the severity spectrum: G843D homozygosity gives the mildest (PBD1B) outcomes, G843D in trans with a null allele an intermediate phenotype, and two null alleles classic Zellweger syndrome (PBD1A).	mechanism: Hypomorphic PEX1 Variants with Residual Peroxin-1 Protein
Zellweger Spectrum Disorders	untyped Autosomal recessive causal pathogenic variant; PEX1 is the most common cause of ZSD. Specific PEX1 variants in exon 13 are associated with primary adrenal insufficiency.	mechanism: Receptor Export Module ATPase Failure subtype: PEX1-ZSD scoped to subtype: PEX1-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 due to PEX1 defect MONDO:0100259	AR	Definitive 2023-09-06	Zellweger Spectrum Disorders untyped

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