Entity Details

Primary name PEX11B
Entity type gene
Source Source Link

Details

PrimaryID8799
RefseqGeneNG_033000
SymbolPEX11B
Nameperoxisomal biogenesis factor 11 beta
Chromosome1
Location1q21.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-06-04
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsPX11B_HUMAN

GO terms

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GOName
GO:0005654 nucleoplasm
GO:0005739 mitochondrion
GO:0005777 peroxisome
GO:0005778 peroxisomal membrane
GO:0005779 integral component of peroxisomal membrane
GO:0005829 cytosol
GO:0007031 peroxisome organization
GO:0007165 signal transduction
GO:0016020 membrane
GO:0016559 peroxisome fission
GO:0032991 protein-containing complex
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0043231 intracellular membrane-bounded organelle
GO:0044375 regulation of peroxisome size
GO:0045046 protein import into peroxisome membrane

Diseases

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Disease IDSourceNameDescription
614920 OMIMPeroxisome 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. The disease is caused by variants affecting the gene represented in this entry.