PEX5L peroxisomal biogenesis factor 5 like
Gene ID: 51555, updated on 17-Jun-2024Gene type: protein coding
Also known as: PXR2; PEX5R; PXR2B; PEX5RP; TRIP8b
- See all available tests in GTR for this gene
- Go to complete Gene record for PEX5L
- Go to Variation Viewer for PEX5L variants
Summary
Enables peroxisome matrix targeting signal-1 binding activity and small GTPase binding activity. Predicted to be involved in protein import into peroxisome matrix, docking and regulation of cAMP-mediated signaling. Predicted to act upstream of or within maintenance of protein location and regulation of membrane potential. Located in cytosol. Part of receptor complex. [provided by Alliance of Genome Resources, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
An atlas of genetic influences on human blood metabolites. GeneReviews: Not available | |
Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia. GeneReviews: Not available |
Genomic context
- Location:
- 3q26.33
- Sequence:
- Chromosome: 3; NC_000003.12 (179794958..180036937, complement)
- Total number of exons:
- 21
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for PEX5L variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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