QuickView for PEX6;jsessionid=583065620E0EA563108DD8AC19DC7E21 (gene)

Gene Symbol:

PEX6 Homo sapiens

Full name:

peroxisomal biogenesis factor 6

Synonyms:

HMLR2, PAF-2, PAF2, PBD4A, PDB4B, PXAAA1, peroxisome biogenesis factor 6, peroxin-6, peroxisomal AAA-type ATPase 1, peroxisomal-type ATPase 1, peroxisome assembly factor 2

Genomic Location:

Chr 6: 43039724-43054866

Description:

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. M...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Saccharomyces cerevisiae ,  Macaca mulatta ,  Schizosaccharomyces pombe ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

GGAANCGGAANY_UNKNOWN ,  SCGGAAGY_ELK1_02

Cytogenetic Map:

6p21.1

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