PEX13 Gene Summary [Human]
This gene encodes a peroxisomal membrane protein that binds the type 1 peroxisomal targeting signal receptor via a SH3 domain located in the cytoplasm. Mutations and deficiencies in peroxisomal protein importing and peroxisome assembly lead to peroxisomal biogenesis disorders, an example of which is Zellweger syndrome. [provided by RefSeq, Oct 2008]
Details
| Type | Protein Coding |
| Official Symbol | PEX13 |
| Official Name | peroxisomal biogenesis factor 13 [Source:HGNC Symbol;Acc:HGNC:8855] |
| Ensembl ID | ENSG00000162928 |
| Bio databases IDs | |
| Aliases | peroxisomal biogenesis factor 13 |
| Synonyms | 2610008O20Rik, NALD, PBD11A, PBD11B, peroxisomal biogenesis factor 13, Pex13p, ZWS |
| 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 PEX13 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
- peroxisome targeting sequence binding
- transmembrane domain
- protein binding
- peroxisome targeting signal
- Peroxin 13, N-terminal region
- transporter
- Src Homology 3 domain superfamily
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 11a (zellweger)
- peroxisome biogenesis disorder 11B
- aphagia
- hypotonia
- bradykinesia
- infantile refsum disease
- impotence
- macrovesicular hepatic steatosis
- dyspnea
- peroxisome biogenesis disorder
role in cell
- expression in
- migration
- activation in
- degeneration
- abnormal morphology
- response by
- function
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
- peroxisome-associated lamellae
- cellular membrane
- cytosol
- peroxisome membrane
- peroxisomes
- peroxisomal fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PEX13 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- neuron migration
- locomotory behavior
- microtubule-based peroxisome localization
- suckling behavior
- protein import into peroxisome matrix, docking
- protein import into peroxisome matrix, translocation
- cellular response to reactive oxygen species
- fatty acid alpha-oxidation
- cerebral cortex cell migration
Cellular Component
Where in the cell the gene product is active
- peroxisomal membrane
- peroxisome
- membrane
- cytosol
Molecular Function
What the gene product does at the molecular level
- protein binding
- protein transmembrane transporter activity