PEX13 peroxisomal biogenesis factor 13
Gene ID: 5194, updated on 2-Nov-2024Gene type: protein coding
Also known as: ZWS; NALD; PBD11A; PBD11B
- See all available tests in GTR for this gene
- Go to complete Gene record for PEX13
- Go to Variation Viewer for PEX13 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. GeneReviews: Not available | |
| Peroxisome biogenesis disorder 11A (Zellweger) | See labs |
| Peroxisome biogenesis disorder 11B | See labs |
Genomic context
- Location:
- 2p15
- Sequence:
- Chromosome: 2; NC_000002.12 (61017720..61051990)
- Total number of exons:
- 4
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PEX13 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbPEX, PEX13 Gene Database
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PEX13 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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