NP_032848.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
35,502 Da
NCBI Official Full Name
peroxisomal biogenesis factor 7 isoform 1
NCBI Official Synonym Full Names
peroxisomal biogenesis factor 7
NCBI Official Synonym Symbols
NCBI Protein Information
peroxisomal biogenesis factor 7; peroxin-7; PTS2 receptor; peroxisome biogenesis factor 7; peroxisomal targeting signal 2 receptor
UniProt Protein Name
Peroxisomal targeting signal 2 receptor
UniProt Synonym Protein Names
Peroxin-7
UniProt Synonym Gene Names
UniProt Entry Name
PEX7_MOUSE
UniProt Comments for PEX7
PEX7: Binds to the N-terminal PTS2-type peroxisomal targeting signal and plays an essential role in peroxisomal protein import. Defects in PEX7 are the cause of peroxisome biogenesis disorder complementation group 11 (PBD-CG11). PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum. The PBD group is genetically heterogeneous with at least 13 distinct genetic groups as concluded from complementation studies. Defects in PEX7 are the cause of rhizomelic chondrodysplasia punctata type 1 (RCDP1). RCDP1 is characterized by rhizomelic shortening of femur and humerus, vertebral disorders, cataract, cutaneous lesions and severe mental retardation. Defects in PEX7 are a cause of Refsum disease (RD); also known as phytanic acid oxidase deficiency. RD is clinically characterized by a tetrad of abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF). Patients exhibit accumulation of the branched-chain fatty acid, phytanic acid, in blood and tissues. Less constant features are nerve deafness, anosmia, skeletal abnormalities, ichthyosis, cataracts and cardiac impairment. Manifestations of the disease appear in the second or third decade of life. Belongs to the WD repeat peroxin-7 family.
Cellular Component: peroxisomal matrix; cell; cytoplasm; peroxisome; intracellular; cytosol
Molecular Function: protein homodimerization activity; enzyme binding; peroxisome matrix targeting signal-2 binding
Biological Process: protein transport; fatty acid beta-oxidation; peroxisome organization and biogenesis; transport; protein targeting to peroxisome; neuron migration; protein import into peroxisome matrix; endochondral ossification; ether lipid biosynthetic process
Research Articles on PEX7
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Pathways associated with PEX7 elisa kit
Diseases associated with PEX7 elisa kit
Organs/Tissues associated with PEX7 elisa kit
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