PEX12
Sign in to saveAlso known as PAF-3, PBD3A, peroxisomal biogenesis factor 12
Peroxisome assembly protein 12 is a protein that in humans is encoded by the PEX12 gene.
In the Vinony graph
Within Vinony's link graph, PEX12 is referenced by 22 other articles, and connects out to PubMed, human chromosome 17 and Ensembl genome database project.
It is catalogued under the topic Genes on human chromosome 17.
Its subject is documented across 6 Wikipedia language editions.
Gene data
PEX12- Name
- peroxisomal biogenesis factor 12
- Type
- protein-coding
- Position
- 35,574,795–35,578,863 (−)
- Aliases
- PAF-3, PBD3A
- Ensembl
- ENSG00000108733
- RefSeq RNA
- NM_000286.3
- RefSeq protein
- NP_000277.1
This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. 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. Defects in this gene are a cause of Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
peroxisomal biogenesis factor 12
- Symbol
- PEX12
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 17:35,574,795-35,578,863
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 8 more facts
- HomoloGene ID
- 240
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/5193
- genomic end
- 33905882
- genomic start
- 33901814
- chromosome
- human chromosome 17
- cytogenetic location
- 17q12
- genetic association
- Zellweger syndrome
via Wikidata · CC0
~1 min read
Encyclopedic overview
6 sectionsContents
- Function
- Clinical significance
- Interactions
- References
- Further reading
- External links
Peroxisome assembly protein 12 is a protein that in humans is encoded by the PEX12 gene.
== Function ==
Excerpted from Wikipedia’s “PEX12” article, available under the CC BY-SA 4.0 licence.