PEX12 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | PEX12 |
| Official Name | peroxisomal biogenesis factor 12 [Source:HGNC Symbol;Acc:HGNC:8854] |
| Ensembl ID | ENSG00000108733 |
| Bio databases IDs | |
| Aliases | peroxisomal biogenesis factor 12 |
| Synonyms | LOC100909787, LOC108348326, LT629148.7, LT629151.7, LT629154.11, PAF-3, PBD3A, Peroxin-12, peroxisomal biogenesis factor 12, Pex12p |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PEX12 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein carrier
- zinc ion binding
- Pex2 / Pex12 amino terminal region
- Ring finger
- RING finger (Really Interesting New Gene) domain and U-box domain superfamily
- protein binding
- enzyme regulator activity
- enzyme activator activity
- zinc binding domain
- Zinc finger, C3HC4 type (RING finger)
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- peroxisome biogenesis disorder 3a (Zellweger)
- Zellweger syndrome
- hereditary disorder
- infantile refsum disease
- peroxisome biogenesis disorder complementation group 3
- peroxisome biogenesis disorder
- peroxisomal biogenesis disorder 3B
role in cell
- binding
- restoration
- organization
- response by
- import in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Mitochondria
- cytosol
- peroxisome membrane
- peroxisomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PEX12 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein import into peroxisome matrix
- proteasomal ubiquitin-dependent protein catabolic process
- misfolded or incompletely synthesized protein catabolic process
- protein targeting to peroxisome
- protein polyubiquitination
- peroxisome organization
- protein import into peroxisome matrix, receptor recycling
- protein monoubiquitination
- cellular response to reactive oxygen species
Cellular Component
Where in the cell the gene product is active
- peroxisomal membrane
- peroxisome
- cytosol
Molecular Function
What the gene product does at the molecular level
- ubiquitin-protein ligase activity
- zinc ion binding
- protein binding
- protein transmembrane transporter activity