PEX6 peroxisomal biogenesis factor 6

Gene ID: 5190, updated on 17-Jun-2024
Gene type: protein coding
Also known as: PAF2; HMLR2; PAF-2; PBD4A; PDB4B; PXAAA1

Summary

This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Heimler syndrome 2 MedGen: C4225267OMIM: 616617GeneReviews: Not available	See labs
Peroxisome biogenesis disorder MedGen: C1832200GeneReviews: Zellweger Spectrum Disorder	See labs
Peroxisome biogenesis disorder 4A (Zellweger) MedGen: C3553936OMIM: 614862GeneReviews: Not available	See labs
Peroxisome biogenesis disorder 4B MedGen: C3553937OMIM: 614863GeneReviews: Not available	See labs

Genomic context

Location:: 6p21.1

Sequence:: Chromosome: 6; NC_000006.12 (42963865..42979181, complement)

Total number of exons:: 17

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for PEX6 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbPEX, PEX6 Gene Database
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PEX6 database
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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