PEX19_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:
PEX19
, HK33, PXF
, OK/SW-cl.22
Protein names and data:
PEX19_HUMAN
, Peroxisomal biogenesis factor 19
, 33 kDa housekeeping protein; Peroxin-19; Peroxisomal farnesylated protein; Flags: Precursor
Lenght: 299 a.a.
Mass: 32807 Da
fasta formatted sequence
Function:
Necessary for early peroxisomal biogenesis. Acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Binds and stabilizes newly synthesized PMPs in the cytoplasm by interacting with their hydrophobic membrane-spanning domains, and targets them to the peroxisome membrane by binding to the integral membrane protein PEX3. Excludes CDKN2A from the nucleus and prevents its interaction with MDM2, which results in active degradation of TP53.
Disease:
( OMIM:
600279
614886
)
Peroxisome biogenesis disorder complementation group 14 (PBD-CG14) [MIM:614886]: 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 12A (PBD12A) [MIM:614886]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Cytoplasm. Peroxisome membrane; Lipid- anchor; Cytoplasmic side. Note=Mainly cytoplasmic. Some fraction membrane-associated to the outer surface of peroxisomes.
Tissue specificity:
Ubiquitously expressed. Isoform 1 is strongly predominant in all tissues except in utero where isoform 2 is the main form.
Database cross-references
UniProt:
P40855
Ensembl:
ENST00000368072
MIM:
600279
MIM:
614886
neXtProt:
NX_P40855
Antibodypedia:
P40855
(may not find the protein thus also not any antibody)
Local full text data:
click here
Users' comments
Login to add a comment.