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Gene: PEX19 (peroxisomal biogenesis factor 19) Homo sapiens
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Symbol: PEX19
Name: peroxisomal biogenesis factor 19
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 33 kDa housekeeping protein; D1S2223E; FLJ55296; HK33; housekeeping gene, 33kD; PBD12A; peroxin-19; peroxisomal farnesylated protein; PMP1; PMPI; PXF; PXMP1
Orthologs:
Mus musculus (house mouse) : Pex19 (peroxisomal biogenesis factor 19)  MGI  Alliance
Rattus norvegicus (Norway rat) : Pex19 (peroxisomal biogenesis factor 19)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Pex19 (peroxisomal biogenesis factor 19)
Pan paniscus (bonobo/pygmy chimpanzee) : PEX19 (peroxisomal biogenesis factor 19)
Canis lupus familiaris (dog) : PEX19 (peroxisomal biogenesis factor 19)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Pex19 (peroxisomal biogenesis factor 19)
Sus scrofa (pig) : PEX19 (peroxisomal biogenesis factor 19)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381160,276,809 - 160,285,151 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371160,246,599 - 160,254,941 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361158,513,226 - 158,521,555 (-)NCBINCBI36hg18NCBI36
Build 341157,059,674 - 157,068,004NCBI
Celera1133,315,362 - 133,323,704 (-)NCBI
Cytogenetic Map1q23.2NCBI
HuRef1131,603,239 - 131,611,581 (-)NCBIHuRef
CHM1_11161,641,944 - 161,650,286 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
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Sequence

Nucleotide Sequences
Protein Sequences
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Additional Information

External Database Links
 
More on PEX19
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1315796
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2019-07-09
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.