InnateDB Protein
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IDBP-1126.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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PEX26
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Protein Name
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peroxisomal biogenesis factor 26
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000331106
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InnateDB Gene
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IDBG-229866 (PEX26)
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Protein Structure
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Function |
Probably required for protein import into peroxisomes. Anchors PEX1 and PEX6 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes. Involved in the import of catalase and proteins containing a PTS2 target sequence, but not in import of proteins with a PTS1 target sequence. {ECO:0000269PubMed:12717447, ECO:0000269PubMed:12851857}.
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Subcellular Localization |
Peroxisome membrane {ECO:0000269PubMed:12717447}; Single-pass type II membrane protein {ECO:0000269PubMed:12717447}.
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Disease Associations |
Peroxisome biogenesis disorder complementation group 8 (PBD-CG8) [MIM:614872]: A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: 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 (PBD-ZSS). Note=The disease is caused by mutations affecting the gene represented in this entry.Peroxisome biogenesis disorder 7A (PBD7A) [MIM:614872]: A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life. {ECO:0000269PubMed:12851857}. Note=The disease is caused by mutations affecting the gene represented in this entry.Peroxisome biogenesis disorder 7B (PBD7B) [MIM:614873]: A peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid. {ECO:0000269PubMed:12717447, ECO:0000269PubMed:12851857}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Widely expressed. Highly expressed in kidney, liver, brain and skeletal muscles. Expressed at intermediate level in pancreas, placenta and heart. Weakly expressed in lung. {ECO:0000269PubMed:12851857}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
9
[view]
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Protein-Protein |
8
[view]
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Protein-DNA |
1
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR010797
Pex26
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PFAM |
PF07163
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q7Z412
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PhosphoSite |
PhosphoSite-Q7Z412
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TrEMBL |
A0A024R100
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UniProt Splice Variant |
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Entrez Gene |
55670
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UniGene |
Hs.517400
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RefSeq |
NP_060399
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HUGO |
HGNC:22965
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OMIM |
608666
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CCDS |
CCDS13750
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HPRD |
10559
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IMGT |
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EMBL |
AB089678
AB103106
AB103107
AB103108
AB103109
AB103110
AC008079
AC016027
AK000065
AK000702
BC016280
BC047320
BF930319
CH471193
CR456362
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GenPept |
AAH16280
AAH47320
BAA90920
BAA91329
BAC66616
BAC78804
BAC78805
BAC78806
BAC78807
BAC78808
CAG30248
EAW57782
EAW57783
EAW57784
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