PEX26_HUMAN » Peroxisome assembly protein 26

PEX26_HUMAN » Peroxisome assembly protein 26
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Topology in Peroxisome membrane
Topologyperoxisome lumenal side
cytoplasmic side
PEX26_HUMAN » Peroxisome assembly protein 26 » Peroxin-26;
Hydrophobic Thickness 29.8 ± 2.4 Å
Tilt Angle 15 ± 0°
ΔGtransfer -19.1 kcal/mol
ΔGfold -5.6 kcal/mol
Links UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC
Topology In
TM Segments 249-269 (249-269)
Pathways

Peroxisome (KEGG)

PDB none
OPM none
Complexes none
Interactions none
Domains

AA: 1-302, Pex26 protein

UniProt annotation for PEX26_HUMAN » Peroxisome assembly protein 26
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.

SUBUNIT: Interacts directly with PEX6 via its cytoplasmic domain. Interacts indirectly with PEX1, via its interaction with PEX6.

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.

DISEASE: Peroxisome biogenesis disorder complementation group 8 (PBD-CG8) OMIM: 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.

DISEASE: Peroxisome biogenesis disorder 7A (PBD7A) OMIM: 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. mutations affecting the gene represented in this entry.

DISEASE: Peroxisome biogenesis disorder 7B (PBD7B) OMIM: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.

UniProt features for PEX26_HUMAN » Peroxisome assembly protein 26
CHAIN 1 305 Peroxisome assembly protein 26.
Amino Acid Sequence for PEX26_HUMAN » Peroxisome assembly protein 26
MKSDSSTSAA PLRGLGGPLR SSEPVRAVPA RAPAVDLLEE AADLLVVHLD FRAALETCER AWQSLANHAV AEEPAGTSLE VKCSLCVVGI QALAEMDRWQ EVLSWVLQYY QVPEKLPPKV LELCILLYSK MQEPGAVLDV VGAWLQDPAN QNLPEYGALA EFHVQRVLLP LGCLSEAEEL VVGSAAFGEE RRLDVLQAIH TARQQQKQEH SGSEEAQKPN LEGSVSHKFL SLPMLVRQLW DSAVSHFFSL PFKKSLLAAL ILCLLVVRFD PASPSSLHFL YKLAQLFRWI RKAAFSRLYQ LRIRD