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PEX11B

Function

Involved in peroxisomal proliferation (PubMed:9792670). May regulate peroxisome division by recruiting the dynamin-related GTPase DNM1L to the peroxisomal membrane (PubMed:12618434). Promotes membrane protrusion and elongation on the peroxisomal surface (PubMed:20826455).

Involvement in disease

Peroxisome biogenesis disorder 14B

PBD14B

An autosomal recessive peroxisome biogenesis disorder characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy. Additionally, recurrent migraine-like episodes following mental stress or physical exertion, not a common feature in peroxisome disorders, are observed.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence Similarities

Belongs to the peroxin-11 family.

Cellular localization

Alternative names

Peroxisomal membrane protein 11B, Peroxin-11B, Peroxisomal biogenesis factor 11B, Protein PEX11 homolog beta, PEX11-beta, PEX11B

swissprot:O96011 omim:603867 entrezGene:8799