PEX12_HUMAN » Peroxisome assembly protein 12

PEX12_HUMAN » Peroxisome assembly protein 12
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Topology in Peroxisome membrane
Topologyperoxisome lumenal side
cytoplasmic side
PEX12_HUMAN » Peroxisome assembly protein 12 » Peroxin-12;Peroxisome assembly factor 3;PAF-3;
Hydrophobic Thickness 28.0 ± 4.0 Å
Tilt Angle 24 ± 6°
ΔGtransfer -15.4 kcal/mol
ΔGfold -7.7 kcal/mol
Links UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC
Topology In
TM Segments 244-265 (242-268)
Pathways none
PDB none
OPM none
Complexes none
Interactions none
Domains

AA: 26-267, Pex2 / Pex12 amino terminal region

UniProt annotation for PEX12_HUMAN » Peroxisome assembly protein 12
FUNCTION: Required for protein import into peroxisomes.

SUBUNIT: Interacts with PEX5 and PEX10. Interacts with PEX19 via its cytoplasmic domain.

DISEASE: Peroxisome biogenesis disorder complementation group 3 (PBD-CG3) 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). mutations affecting the gene represented in this entry.

DISEASE: Peroxisome biogenesis disorder 3A (PBD3A) 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 3B (PBD3B) 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 PEX12_HUMAN » Peroxisome assembly protein 12
CHAIN 1 359 Peroxisome assembly protein 12.
ZN_FING 304 343 RING-type; degenerate.
Amino Acid Sequence for PEX12_HUMAN » Peroxisome assembly protein 12
MAEHGAHFTA ASVADDQPSI FEVVAQDSLM TAVRPALQHV VKVLAESNPT HYGFLWRWFD EIFTLLDLLL QQHYLSRTSA SFSENFYGLK RIVMGDTHKS QRLASAGLPK QQLWKSIMFL VLLPYLKVKL EKLVSSLREE DEYSIHPPSS RWKRFYRAFL AAYPFVNMAW EGWFLVQQLR YILGKAQHHS PLLRLAGVQL GRLTVQDIQA LEHKPAKASM MQQPARSVSE KINSALKKAV GGVALSLSTG LSVGVFFLQF LDWWYSSENQ ETIKSLTALP TPPPPVHLDY NSDSPLLPKM KTVCPLCRKT RVNDTVLATS GYVFCYRCVF HYVRSHQACP ITGYPTEVQH LIKLYSPEN