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PEX11B
peroxisomal biogenesis factor 11 beta
PEX11B is located on the long (q) arm of chromosome 1, at band 1q21.1. Arm ratio per GRCh38 - banding schematic.
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Overview
PEX11B (peroxisomal biogenesis factor 11 beta) is located on chromosome 1 at position 1q21.1 and encodes a protein integral to peroxisome biology. Peroxisomes are cellular organelles responsible for diverse metabolic processes, including the oxidation of very-long-chain fatty acids and the synthesis of plasmalogens, a type of phospholipid important for myelin formation.
The protein encoded by PEX11B contributes to peroxisome proliferation, the process by which new peroxisomes form from pre-existing ones. This process is essential for maintaining adequate peroxisome numbers and function across different cell types. Changes in PEX11B may affect how efficiently cells produce and maintain their peroxisome populations, potentially impacting metabolic homeostasis.
What the gene does
The PEX11B protein functions as a regulator of peroxisome proliferation and membrane dynamics. Research suggests that this protein participates in the division of peroxisomes by influencing membrane curvature and the recruitment of other factors needed for organelle fission. By promoting peroxisome division, PEX11B helps cells adjust their peroxisome numbers in response to metabolic demands.
Peroxisome proliferation is particularly important during development and in tissues with high metabolic activity, such as the liver and kidneys. The protein may work alongside other members of the PEX11 family to coordinate peroxisome growth and division. Evidence suggests that PEX11B localises to the peroxisomal membrane, where it can directly influence organelle morphology and multiplication.
When peroxisome numbers are insufficient or peroxisomes fail to divide properly, cells may struggle to carry out essential metabolic reactions, including the breakdown of specific fatty acids and the detoxification of reactive oxygen species.
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Chromosome location
PEX11B is located on the long arm of chromosome 1 at position 1q21.1. This chromosomal region contains multiple genes and has been associated with genomic rearrangements in certain clinical contexts. The precise exon structure and transcript variants of PEX11B have been documented, though detailed structural annotations are still being refined in genomic databases.
Protein structure
Domain architecture has not been experimentally characterised in detail for this protein. The PEX11B protein is predicted to contain membrane-associated regions that enable its localisation to the peroxisomal membrane, where it carries out its role in organelle division and proliferation.
Key variants
Genetic variants in PEX11B can affect the protein's ability to promote peroxisome proliferation. Changes that disrupt protein stability, membrane localisation, or interactions with other peroxisomal factors may impair peroxisome division. The inheritance pattern for PEX11B-related conditions varies depending on the specific variant and associated phenotype.
Sample of pathogenic variants
7 pathogenic / likely-pathogenic variants from ClinVar, ranked by review status (expert-panel-reviewed first). This is a sample; recurrent founder variants in a specific population may not appear here - see the full ClinVar listing via the link above.
| Variant (HGVS) | Protein change | Classification | Evidence | Associated condition |
|---|---|---|---|---|
c.1A>G | p.Met1Val | Pathogenic/Likely pathogenic | ★★☆☆ | Peroxisome biogenesis disorder 14B |
c.277C>T | p.Arg93Ter | Pathogenic/Likely pathogenic | ★★☆☆ | Peroxisome biogenesis disorder |
c.595C>T | p.Arg199Ter | Pathogenic | ★★☆☆ | Peroxisome biogenesis disorder 14B |
g.(?_145516401)_(145518292_?)del | - | Pathogenic | ★☆☆☆ | not provided |
c.108dup | p.Ala37fs | Pathogenic | ★☆☆☆ | not provided |
c.63_64del | p.Gln22fs | Pathogenic | ★☆☆☆ | not provided |
c.64C>T | p.Gln22Ter | Pathogenic | - | Peroxisome biogenesis disorder 14B |
Evidence stars indicate ClinVar review status. Individual variant interpretation should always be performed by a qualified clinical laboratory - many variants remain classified as Variants of Uncertain Significance (VUS) pending more research.
Associated conditions
Alterations in PEX11B have been investigated in the context of peroxisomal disorders, a group of conditions characterised by impaired peroxisome function. While PEX11B is not among the most commonly implicated genes in classic peroxisomal biogenesis disorders, research continues to explore its potential contribution to milder or atypical presentations. Most well-characterised peroxisomal disorders involve other genes in the PEX family or genes encoding peroxisomal enzymes.
No disease links recorded for this gene in our reference set.
UK clinical status
Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory
Frequently asked questions
What do peroxisomes do in the body?
Peroxisomes are cellular organelles that perform essential metabolic functions, including breaking down very-long-chain fatty acids, synthesising plasmalogens needed for myelin, and detoxifying harmful substances. They are present in virtually all cells and are particularly abundant in liver and kidney tissue.
How common are genetic changes in PEX11B?
The frequency of pathogenic variants in PEX11B is not well established in population studies. Peroxisomal disorders as a group are rare, and PEX11B is not among the most frequently altered genes in these conditions.
Can changes in PEX11B affect brain development?
Peroxisomes play important roles in brain development, particularly in the formation of myelin, which insulates nerve fibres. Severe disruptions to peroxisome function can affect neurological development, though the specific contribution of PEX11B variants to such outcomes requires further research.