rs1129187

This is a variant in the PEX6 gene that changes a proline to an glutamine.

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ClinVar annotation

Benign★★★☆

2 submitters2 publications

Heimler syndrome 2 (HMLR2); Peroxisome biogenesis disorder (PBD, ZSS); Peroxisome biogenesis disorder 4A (Zellweger) (PBD4A); Peroxisome biogenesis disorder 4B (PBD4B); Zellweger spectrum disorders (ZS); not specified

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About PEX6

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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