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- Table of Contents
Facts about Peroxisomal targeting signal 2 receptor.
Human | |
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Gene Name: | PEX7 |
Uniprot: | O00628 |
Entrez: | 5191 |
Belongs to: |
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WD repeat peroxin-7 family |
peroxin-7; peroxisomal biogenesis factor 7; peroxisomal targeting signal 2 receptor; peroxisome targeting signal 2 receptor; PTS2 receptor; PTS2Rperoxisomal PTS2 receptor; RCDP1; RD
Mass (kDA):
35.892 kDA
Human | |
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Location: | 6q23.3 |
Sequence: | 6; NC_000006.12 (136821683..136913934) |
Ubiquitous. Highest expression in pancreas, skeletal muscle and heart.
Peroxisome. Cytoplasm.
PMID: 9090383 by Purdue P.E., et al. Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor.
PMID: 9090381 by Braverman N., et al. Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.