PEX10

Peroxisome biogenesis factor 10 is a protein that in humans is encoded by the PEX10 gene.^[5][6] Alternative splicing results in two transcript variants encoding different isoforms.

PEX10
Identifiers
Aliases	PEX10, NALD, PBD6A, PBD6B, RNF69, peroxisomal biogenesis factor 10
External IDs	OMIM: 602859; MGI: 2684988; HomoloGene: 5671; GeneCards: PEX10; OMA:PEX10 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p36.32 Start 2,403,964 bp[1] End 2,413,797 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4|4 E2 Start 155,151,473 bp[2] End 155,156,890 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in parotid gland tendon of biceps brachii C1 segment right adrenal cortex left adrenal gland left adrenal cortex amygdala internal globus pallidus left testis right testis Top expressed in yolk sac hand aortic valve otolith organ utricle neural layer of retina muscle of thigh right kidney ascending aorta soleus muscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function zinc ion binding protein C-terminus binding protein binding metal ion binding Cellular component peroxisome membrane integral component of peroxisomal membrane intracellular anatomical structure peroxisomal membrane Biological process peroxisome organization protein import into peroxisome matrix protein ubiquitination protein targeting to peroxisome Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5192 668173 Ensembl ENSG00000157911 ENSMUSG00000029047 UniProt O60683 B1AUE5 RefSeq (mRNA) NM_002617 NM_153818 NM_001374425 NM_001374426 NM_001374427 NM_001042407 RefSeq (protein) NP_002608 NP_722540 NP_001361354 NP_001361355 NP_001361356 NP_001035866 Location (UCSC) Chr 1: 2.4 – 2.41 Mb Chr 4: 155.15 – 155.16 Mb PubMed search [3] [4]
Wikidata
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Function

Peroxisome biogenesis factor 10 is involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane.^[6]

Clinical significance

Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome.^[6]

Interactions

PEX10 has been shown to interact with PEX12^[7][8] and PEX19.^[9][10]