PEX26
entrez
55670
canonical
uniprot
Q7Z412
canonical
ensembl
ENSG00000215193
resolver
ensp
ENSP00000331106
resolver
ensp
ENSP00000382648
resolver
ensp
ENSP00000412441
resolver
genesymbol
PEX26
resolver
hgnc
HGNC:22965
resolver
uniprot
A0A024R100
resolver
uniprot
A0A0S2Z5M7
resolver
uniprot
F6UBB5
resolver
uniprot
Q7Z413
resolver
uniprot
Q7Z414
resolver
uniprot
Q7Z415
resolver
uniprot
Q7Z416
resolver
uniprot
Q96B12
resolver
uniprot
Q9NWQ0
resolver
uniprot
Q9NXU0
resolver
uniprot_entry
A0A024R100_HUMAN
resolver
uniprot_entry
A0A0S2Z5M7_HUMAN
resolver
uniprot_entry
PEX26_HUMAN
resolver
uniprot_sec
F6UBB5
resolver
uniprot_sec
Q7Z413
resolver
uniprot_sec
Q7Z414
resolver
uniprot_sec
Q7Z415
resolver
uniprot_sec
Q7Z416
resolver
uniprot_sec
Q96B12
resolver
uniprot_sec
Q9NWQ0
resolver
uniprot_sec
Q9NXU0
resolver
amino_acid_sequence
MKSDSSTSAAPLRGLGGPLRSSEPVRAVPARAPAVDLLEEAADLLVVHLDFRAALETCERAWQSLANHAVAEEPAGTSLEVKCSLCVVGIQALAEMDRWQEVLSWVLQYYQVPEKLPPKVLELCILLYSKMQEPGAVLDVVGAWLQDPANQNLPEYGALAEFHVQRVLLPLGCLSEAEELVVGSAAFGEERRLDVLQAIHTARQQQKQEHSGSEEAQKPNLEGSVSHKFLSLPMLVRQLWDSAVSHFFSLPFKKSLLAALILCLLVVRFDPASPSSLHFLYKLAQLFRWIRKAAFSRLYQLRIRD
uniprot
proteins
disease_involvement
DISEASE: 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). {ECO:0000269|PubMed:12717447, ECO:0000269|PubMed:12851857, ECO:0000269|PubMed:16257970, ECO:0000269|PubMed:19105186}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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:0000269|PubMed:12851857, ECO:0000269|PubMed:33912394}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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:0000269|PubMed:12717447, ECO:0000269|PubMed:12851857}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Peroxisomal docking factor that anchors PEX1 and PEX6 to peroxisome membranes (PubMed:12717447, PubMed:12851857, PubMed:16257970, PubMed:16763195, PubMed:16854980, PubMed:21362118). PEX26 is therefore required for the formation of the PEX1-PEX6 AAA ATPase complex, a complex that mediates the extraction of the PEX5 receptor from peroxisomal membrane (PubMed:12717447, PubMed:12851857, PubMed:16257970, PubMed:16763195, PubMed:16854980, PubMed:21362118). {ECO:0000269|PubMed:12717447, ECO:0000269|PubMed:12851857, ECO:0000269|PubMed:16257970, ECO:0000269|PubMed:16763195, ECO:0000269|PubMed:16854980, ECO:0000269|PubMed:21362118}.
uniprot
proteins
mass_dalton
33898
uniprot
proteins
protein_family
Peroxin-26 family
uniprot
proteins
pubmed
10591208
uniprot
proteins
pubmed
10737800
uniprot
proteins
pubmed
12717447
uniprot
proteins
pubmed
12851857
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15461802
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16257970
uniprot
proteins
pubmed
16763195
uniprot
proteins
pubmed
16854980
uniprot
proteins
pubmed
19105186
uniprot
proteins
pubmed
21362118
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
33912394
uniprot
proteins
sequence_length
305
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Peroxisome membrane {ECO:0000269|PubMed:12717447, ECO:0000269|PubMed:16257970}; Single-pass type II membrane protein {ECO:0000269|PubMed:12717447}.
uniprot
proteins
transmembrane_region
TRANSMEM 247..267; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins