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Malignant cells showed weak to moderate cytoplasmic staining. Cases of testicular cancers, malignant carcinoids and lymphomas exhibited strong immunoreactivity.
GENE INFORMATION
Gene name
PEX6 (HGNC Symbol)
Synonyms
PAF-2, PXAAA1
Description
Peroxisomal biogenesis factor 6 (HGNC Symbol)
Entrez gene 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]
Transporters Primary Active Transporters SCAMPI predicted membrane proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)