Rabbit anti-Human PEX19 Monoclonal Antibody

Uniprot Id

P40855

Target Species

Human

Target Name

PEX19

Target Full Name

Peroxisomal biogenesis factor 19

Target 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.

Target Involvement

Peroxisome biogenesis disorder complementation group 14 (PBD-CG14); Peroxisome biogenesis disorder 12A (PBD12A)

Target Subcellular Location

Cytoplasm. Peroxisome membrane; Lipid-anchor; Cytoplasmic side.

Target Protein Families

Peroxin-19 family

Target Tissue Specificity

Ubiquitously expressed. Isoform 1 is strongly predominant in all tissues except in utero where isoform 2 is the main form.

Target Synonyms

33 kDa housekeeping protein; D1S2223E; HK33; Housekeeping gene 33kD; OK/SW-cl.22; PBD12A; Peroxin 19; Peroxin-19; Peroxisomal biogenesis factor 19; Peroxisomal farnesylated protein; PEX19; PEX19_HUMAN; PMP1; PMPI; PXF; PXMP1

Target Background

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.