| 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. |
| Protein length : |
296 amino acids |
| Conjugation : |
HIS |
| Molecular Weight : |
34.600kDa inclusive of tags |
| Source : |
E. coli |
| Tissue specificity : |
Ubiquitously expressed. Isoform 1 is strongly predominant in all tissues except in utero where isoform 2 is the main form. |
| Form : |
Liquid |
| Purity : |
>90% by SDS-PAGE |
| Storage buffer : |
pH: 8.00Constituents:10% Glycerol, 0.32% Tris HCl |
| Storage : |
Shipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles. |
| Sequences of amino acids : |
MGSSHHHHHHSSGLVPRGSHMAAAE EGCSVGAEADRELEELLESALDDFD KAKPSPAPPSTTTAPDASGPQKRSP GDTAKDALFASQEKFFQELFDSELA SQATAEFEKAMKELAEEEPHLVEQF QKLSEAAGRVGSDMTSQQEFTSCLK ETLSGLAKNATDLQNSSMSEEELTK AMEGLGMDEGDGEGNILPIMQSIMQ NLLSKDVLYPSLKEITEKYPEWLQS HRESLPPEQFEKYQEQHSVMCKICE QFEAETPTDSETTQKARFEMVLDLM QQLQDLGHPPKELAGEMPPGLNFDL DALNLSGPPGASGEQC |
| Sequence Similarities : |
Belongs to the peroxin-19 family. |
