PEX2 peroxisomal biogenesis factor 2
Gene ID: 5828, updated on 11-Apr-2024Gene type: protein coding
Also known as: PAF1; PMP3; ZWS3; PBD5A; PBD5B; PMP35; PXMP3; RNF72
- See all available tests in GTR for this gene
- Go to complete Gene record for PEX2
- Go to Variation Viewer for PEX2 variants
Summary
This gene encodes an integral peroxisomal membrane protein required for peroxisome biogenesis. The protein is thought to be involved in peroxisomal matrix protein import. Mutations in this gene result in one form of Zellweger syndrome and infantile Refsum disease. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A novel common variant in DCST2 is associated with length in early life and height in adulthood. GeneReviews: Not available | |
| GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease. GeneReviews: Not available | |
| Hundreds of variants clustered in genomic loci and biological pathways affect human height. GeneReviews: Not available | |
| Many sequence variants affecting diversity of adult human height. GeneReviews: Not available | |
| Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. GeneReviews: Not available | |
| Peroxisome biogenesis disorder 5A (Zellweger) | See labs |
| Peroxisome biogenesis disorder 5B | See labs |
| Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. GeneReviews: Not available |
Genomic context
- Location:
- 8q21.13
- Sequence:
- Chromosome: 8; NC_000008.11 (76980258..77001044, complement)
- Total number of exons:
- 5
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PEX2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbPEX, PEX2 Gene Database
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PEX2 database
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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