PEX16 - dismech genes

Normal function · from ai-gene-review (Q9Y5Y5, commit 79fe13b38970) · AI-generated, not KB evidence

PEX16 is an integral peroxisomal membrane peroxin (peroxin-16) that functions as the intra-peroxisomal/ER membrane receptor for PEX3 during peroxisome membrane biogenesis. PEX16 is cotranslationally inserted into the ER membrane and traffics to peroxisomes via Sec16B-dependent ER export. At the peroxisomal membrane, PEX16 serves as the docking receptor for PEX3-PEX19 complexes, enabling the import of peroxisomal membrane proteins (PMPs). PEX16 is one of three early peroxins (with PEX3 and PEX19) essential for peroxisome membrane assembly; loss of PEX16 leads to complete absence of peroxisomal membranes. PEX16 also mediates ER-to-peroxisome trafficking of PMPs including PEX3 and PMP34, contributing to both de novo peroxisome formation and ongoing peroxisome maintenance. Mutations in PEX16 cause Zellweger spectrum disorders (complementation group 9/CG-D).

PEX16 is an integral peroxisomal membrane peroxin that functions as the membrane receptor/docking site for PEX3-PEX19 complexes. PEX16 binds PEX3 directly via a cytosolic loop (residues 132-214) and enables PMP delivery to the peroxisomal membrane. PEX16 is essential for peroxisome membrane biogenesis; loss of PEX16 leads to complete absence of peroxisomal membranes and causes Zellweger spectrum disorders (complementation group 9). PEX16 also mediates ER-dependent de novo peroxisome formation by being cotranslationally inserted into the ER and recruiting other PMPs (PEX3, PMP34) to ER membranes for subsequent transport to peroxisomes.

molecular function: molecular adaptor activity · directly involved in: peroxisome membrane biogenesis; ER-dependent peroxisome organization; protein import into peroxisome membrane; peroxisome organization · locations: peroxisomal membrane; endoplasmic reticulum membrane

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 8B	causative germline partial loss of function	mechanism: Hypomorphic PEX16 Variants with Residual Peroxin Function animal model: Humanised Pex16-null Drosophila
Peroxisome Biogenesis Disorder	untyped Pathogenic Variants
Zellweger Spectrum Disorders	untyped Autosomal recessive causal pathogenic variant. PEX16 acts with PEX19 on the class II route of peroxisomal membrane protein insertion.	mechanism: Peroxisomal Membrane Assembly Failure subtype: PEX16-ZSD scoped to subtype: PEX16-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 2020-01-13	Peroxisome Biogenesis Disorder untyped