PEX10 Gene Summary [Human]
This gene encodes a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | PEX10 |
| Official Name | peroxisomal biogenesis factor 10 [Source:HGNC Symbol;Acc:HGNC:8851] |
| Ensembl ID | ENSG00000157911 |
| Bio databases IDs | |
| Aliases | peroxisomal biogenesis factor 10 |
| Synonyms | Gm142, LOC687157, NALD, PBD6A, PBD6B, Peroxin10, peroxisomal biogenesis factor 10, Pex10p, RNF69 |
| 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 PEX10 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
- Pex2 / Pex12 amino terminal region
- ubiquitin protein ligase activity
- zinc finger of C3HC4-type, RING
- enzyme
- Ring finger domain
- protein binding
- zinc binding domain
- RING-type zinc-finger
- RING finger (Really Interesting New Gene) domain and U-box domain superfamily
- Ring finger
- RING-H2 zinc finger domain
- Zinc finger, C3HC4 type (RING finger)
- zinc-RING finger domain
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 6a (zellweger)
- Zellweger syndrome
- peroxisome biogenesis disorder 6B
- infantile refsum disease
- hereditary disorder
- global developmental delay
- peroxisome biogenesis disorder
- glomerulonephritis
- hereditary spastic ataxia
role in cell
- organization
- response by
- biogenesis
- biogenesis in
- binding
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 membrane
- peroxisomes
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PEX10 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 polyubiquitination
- peroxisome organization
- protein import into peroxisome matrix, receptor recycling
- cellular response to reactive oxygen species
Cellular Component
Where in the cell the gene product is active
- peroxisomal membrane
- peroxisome
Molecular Function
What the gene product does at the molecular level
- zinc ion binding
- protein binding
- protein transmembrane transporter activity