| Gene Symbol | PEX13 |
| Aliases | Peroxin-13 |
| Chromosome | 2p15 |
| Protein Family | SH3 domain-containing proteins, Peroxin family |
| Function | Cargo recognition: PEX5 recognizes proteins containing the PTS1 signal (SKL motif or variant) in the cytosol. |
| Molecular Weight | 54 kDa |
| Amino Acids | 489 aa |
| UniProt ID | Q9UKJ0 |
| GeneCards | PEX13 |
| Human Protein Atlas | PEX13 |
| Zellweger syndrome (ZS) | The most severe phenotype, presenting with profound neonatal hypotonia, craniofacial dysmorphism, severe developmental delay, neuronal migration defects, and often early death |
| Neonatal adrenoleukodystrophy (NALD) | Intermediate severity with later onset and somewhat slower progression |
| Infantile Refsum disease (IRD) | The mildest phenotype, with later onset and longer survival |
| Associated Diseases | neurodegeneration |
| KG Connections | 8 knowledge graph edges |
| Databases | GeneCardsNCBI GeneHPASTRING |
No AI portrait yet
No comments yet. Be the first to comment!