PEX19 Recombinant Rabbit Monoclonal Antibody [JE54-93] (ET7110-89)

UNIPROT #

P40855

PROTEIN NAME

PEX19

SYNONYMS

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

SEQUENCE SIMILARITIES

Belongs to the peroxin-19 family.

TISSUE SPECIFICITY

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

SUBCELLULAR LOCATION

Peroxisome membrane, cytoplasmic side, cytoplasm.

FUNCTION

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.