| Description : |
The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. 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. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular 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 neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified. |
| Source : |
HEK293 |
| Species : |
Human |
| Tag : |
Myc/DDK |
| Molecular Mass : |
69.9 kDa |
| AA Sequence : |
MAMRELVEAECGGANPLMKLAGHFT QDKALRQEGLRPGPWPPGAPASEAA SKPLGVASEDELVAEFLQDQNAPLV SRAPQTFKMDDLLAEMQQIEQSNFR QAPQRAPGVADLALSENWAQEFLAA GDAVDVTQDYNETDWSQEFISEVTD PLSVSPARWAEEYLEQSEEKLWLGE PEGTATDRWYDEYHPEEDLQHTASD FVAKVDDPKLANSEFLKFVRQIGEG QVSLESGAGSGRAQAEQWAAEFIQQ QGTSDAWVDQFTRPVNTSALDMEFE RAKSAIELQAELEEMAKRDAEAHPW LSDYDDLTSATYDKGYQFEEENPLR DHPQPFEEGLRRLQEGDLPNAVLLF EAAVQQDPKHMEAWQYLGTTQAENE QELLAISALRRCLELKPDNQTALMA LAVSFTNESLQRQACETLRDWLRYT PAYAHLVTPAEEGAGGAGLGPSKRI LGSLLSDSLFLEVKELFLAAVRLDP TSIDPDVQCGLGVLFNLSGEYDKAV DCFTAALSVRPNDYLLWNKLGATLA NGNQSEEAVAAYRRALELQPGYIRS RYNLGISCINLGAHREAVEHFLEAL NMQRKSRGPRGEGGAMSENIWSTLR LALSMLGQSDAYGAADARDLSTLLT MFGLPQSGPTRTRPLEQKLISEEDL AANDILDYKDDDDKV |
| Purity : |
> 80% as determined by SDS-PAGE and Coomassie blue staining |
| Stability : |
Stable for 3 months from receipt of products under proper storage and handling conditions. |
| Storage : |
Store at -80 centigrade. Avoid repeated freeze-thaw cycles. |
| Concentration : |
50 μg/mL as determined by BCA |
| Storage Buffer : |
100 mM glycine, 25 mM Tris-HCl, pH 7.3. |
