Peroxisome biogenesis factor 1, also known as PEX1, is a protein which in humans is encoded by the PEX1 gene. [5] This gene encodes a member of the AAA protein family, a large group of ATPases associated with diverse cellular activities.

The PEX1 gene provides instructions for making a protein called peroxisomal biogenesis factor 1 (Pex1p), which is part of a group of proteins called peroxins. Learn about this gene and related health conditions.

2024年12月25日 · PEX1 (Peroxisomal Biogenesis Factor 1) is a Protein Coding gene. Diseases associated with PEX1 include Peroxisome Biogenesis Disorder 1B and Heimler Syndrome 1. Among its related pathways are Peroxisomal lipid metabolism and Ether lipid biosynthesis.

In response, we developed the PEX Gene Screen, an algorithm for the systematic screening of exons in the six PEX genes most commonly defective in PBD-ZSS. We used PCR amplification of genomic DNA and sequencing to screen 91 unclassified PBD-ZSS patients for mutations in PEX1, PEX26, PEX6, PEX12, PEX10, and PEX2.

2024年12月25日 · PEX2 (Peroxisomal Biogenesis Factor 2) is a Protein Coding gene. Diseases associated with PEX2 include Peroxisome Biogenesis Disorder 5B and Peroxisome Biogenesis Disorder 5A. Among its related pathways are Peroxisomal lipid …

2012年9月1日 · Peroxisome biogenesis disorders (PBDs) are clinically, biochemically and genetically heterogeneous. PBDs are autosomal recessive disorders which can be caused by any of at least 14 different PEX genes. PEX genes encode proteins involved in peroxisome assembly, including protein import and peroxisome division. Genetic testing for all PEX ...

2022年11月1日 · Investigations into peroxisome biogenesis and the human peroxisome biogenesis disorders (PBDs) have identified 14 PEX genes encoding peroxins involved in peroxisome biogenesis and the mutation of PEX genes is responsible for the PBDs. Many recent findings have further advanced our understanding of …

2025年3月8日 · This gene encodes a member of the AAA ATPase family, a large group of ATPases associated with diverse cellular activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis.

Protein import and turnover of constituent peroxisomal proteins are controlled by the state of cell growth and environment. The evolutionary origin of the peroxisome and the role of the endoplasmic reticulum in peroxisome biogenesis are discussed, as informed by studies of the trafficking of peroxisome membrane proteins.

2024年12月25日 · PEX3 (Peroxisomal Biogenesis Factor 3) is a Protein Coding gene. Diseases associated with PEX3 include Peroxisome Biogenesis Disorder 10B and Peroxisome Biogenesis Disorder 10A. Among its related pathways are Autodegradation of the E3 ubiquitin ligase COP1 and Peroxisomal lipid metabolism.