PEX5_HUMAN
Source:
PM19886704
PM23856902
Marked as 'Membrane associated protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
PEX5
, PXR1
Protein names and data:
PEX5_HUMAN
, Peroxisomal targeting signal 1 receptor; PTS1 receptor; PTS1R
, PTS1-BP; Peroxin-5; Peroxisomal C-terminal targeting signal import receptor; Peroxisome receptor 1
Lenght: 639 a.a.
Mass: 70865 Da
fasta formatted sequence
Function:
Binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import.
Disease:
( OMIM:
202370
214110
600414
)
Peroxisome biogenesis disorder 2A (PBD2A) [MIM:214110]: A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and characterized clinically 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. Note=The disease is caused by mutations affecting the gene represented in this entry. Peroxisome biogenesis disorder 2B (PBD2B) [MIM:202370]: 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.
Cellular location:
Cytoplasm. Peroxisome membrane; Peripheral membrane protein. Note=Its distribution appears to be dynamic. It is probably a cycling receptor found mainly in the cytoplasm and as well associated to the peroxisomal membrane through a docking factor (PEX13).
Tissue specificity:
Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
Genetic variants
526 - 526
N -> K (in PBD2B; neonatal adrenoleukodystrophy; strongly affects peroxisomal protein import). VAR_007543
600 - 600
S -> W (in PBD2B; infantile Refsum disease; mildly affects peroxisomal protein import). VAR_031328
Database cross-references
UniProt:
P50542
Ensembl:
ENST00000266563
Ensembl:
ENST00000266564
Ensembl:
ENST00000420616
Ensembl:
ENST00000434354
Ensembl:
ENST00000455147
MIM:
202370
MIM:
214110
MIM:
600414
neXtProt:
NX_P50542
Antibodypedia:
P50542
(may not find the protein thus also not any antibody)
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