PEX19

GENE INFORMATION

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Gene name

PEX19 (HGNC Symbol)

Synonyms

D1S2223E, HK33, PMP1, PMPI, PXF, PXMP1

Description

Peroxisomal biogenesis factor 19 (HGNC Symbol)

Entrez gene summary

This gene is necessary for early peroxisomal biogenesis. It acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. These disorders have at least 14 complementation groups, with more than one phenotype being observed for some complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS), as well as peroxisome biogenesis disorder complementation group 14 (PBD-CG14), which is also known as PBD-CGJ. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]

Chromosome

1

Cytoband

q23.2

Chromosome location (bp)

160246602 - 160256138

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000162735 (version 75.37)

Entrez gene

5824

UniProt

P40855 (UniProt - Evidence at protein level)

neXtProt

NX_P40855

Antibodypedia

PEX19 antibodies
 

PROTEIN VIEW

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PEX19-001
 
PEX19-002
 
PEX19-003
 
PEX19-004
 
PEX19-005
 
PEX19-008
 
PEX19-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PEX19-001 ENSP00000357051
ENST00000368072
P40855
Show all »
Show » Show » 299 32.8 No 0
PEX19-002 ENSP00000434633
ENST00000472750
E9PPB4
Show all »
Show » 40 4.5 No 0
PEX19-003 ENSP00000376054
ENST00000392220
Q5QNY5
Show all »
Show » Show » 235 26.1 No 0
PEX19-004 ENSP00000435896
ENST00000462644
E9PS71
Show all »
Show » Show » 166 18 No 0
PEX19-005 ENSP00000434567
ENST00000495624
Show » Show » 119 13.7 No 0
PEX19-008 ENSP00000435915
ENST00000532643
B7Z8B3
Show all »
Show » Show » 186 20.1 No 0
PEX19-201 ENSP00000396784
ENST00000440949
B7Z6I5
Show all »
Show » Show » 209 23.3 No 0