PEX16 Gene Summary [Human]
The protein encoded by this gene is an integral peroxisomal membrane protein. An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9. Expression of this gene product morphologically and biochemically restores the formation of new peroxisomes, suggesting a role in peroxisome organization and biogenesis. Alternative splicing has been observed for this gene and two variants have been described. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | PEX16 |
| Official Name | peroxisomal biogenesis factor 16 [Source:HGNC Symbol;Acc:HGNC:8857] |
| Ensembl ID | ENSG00000121680 |
| Bio databases IDs | |
| Aliases | peroxisomal biogenesis factor 16 |
| Synonyms | PBD8A, PBD8B, Peroxin-16, peroxisomal biogenesis factor 16, Peroxisome biogenesis factor 16, PEX16p |
| 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 PEX16 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Peroxisomal membrane protein (Pex16)
- cytoplasmic domain
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- infantile refsum disease
- peroxisome biogenesis disorder 8a (zellweger)
- peroxisome biogenesis disorder
- peroxisome biogenesis disorder 8B
- chronic fatigue syndrome
- SAPHO syndrome
role in cell
- formation
- assembly
- restoration
- organization
- biogenesis
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
- Endoplasmic Reticulum
- cytosol
- endoplasmic reticulum membrane
- peroxisome membrane
- peroxisomes
- peroxisomal fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PEX16 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- peroxisome membrane biogenesis
- protein import into peroxisome matrix
- protein targeting to peroxisome
- protein to membrane docking
- protein import into peroxisome membrane
- peroxisome organization
- ER-dependent peroxisome organization
Cellular Component
Where in the cell the gene product is active
- peroxisomal membrane
- endoplasmic reticulum membrane
- peroxisome
- membrane
- cytosol
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- protein binding