PEX12

Peroxisome assembly protein 12 is a protein that in humans is encoded by the PEX12 gene.^[5][6]

PEX12
Identifiers
Aliases	PEX12, PAF-3, PBD3A, peroxisomal biogenesis factor 12
External IDs	OMIM: 601758; MGI: 2144177; HomoloGene: 240; GeneCards: PEX12; OMA:PEX12 - orthologs
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17q12 Start 35,574,795 bp[1] End 35,578,863 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11|11 C Start 83,185,468 bp[2] End 83,193,412 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte Epithelium of choroid plexus gonad germinal epithelium islet of Langerhans tibialis anterior muscle biceps brachii ventricular zone deltoid muscle corpus epididymis Top expressed in secondary oocyte primary oocyte spermatid muscle of thigh zygote otic vesicle seminal vesicula medial ganglionic eminence proximal tubule lacrimal gland More reference expression data BioGPS More reference expression data
Gene ontology Molecular function ubiquitin-protein transferase activity zinc ion binding protein C-terminus binding protein binding metal ion binding Cellular component integral component of membrane peroxisomal importomer complex peroxisome membrane integral component of peroxisomal membrane peroxisomal membrane Biological process protein targeting to peroxisome peroxisome organization protein import into peroxisome matrix protein monoubiquitination protein ubiquitination Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5193 103737 Ensembl ENSG00000108733 ENSMUSG00000018733 UniProt O00623 Q8VC48 RefSeq (mRNA) NM_000286 NM_134025 NM_001364762 NM_001364763 RefSeq (protein) NP_000277 NP_598786 NP_001351691 NP_001351692 Location (UCSC) Chr 17: 35.57 – 35.58 Mb Chr 11: 83.19 – 83.19 Mb PubMed search [3] [4]
Wikidata
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Function

PEX12 is needed for protein import into peroxisomes.^[7] This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes.

Clinical significance

The peroxisome biogenesis disorders (PBDs; MIM 601539) are a group of genetically heterogeneous diseases that are usually lethal in early infancy. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. This cellular phenotype is shared by yeast 'pex' mutants, and human orthologs of yeast PEX genes defective in some PBD complementation groups (CGs).^[6]

Interactions

PEX12 has been shown to interact with PEX10,^[8][9] PEX5^[8][9] and PEX19.^[10][11]