PEX10 cdna clone
PEX10 cDNA Clone
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Uniprot Description
PEX10: Somewhat implicated in the biogenesis of peroxisomes. Defects in PEX10 are the cause of peroxisome biogenesis disorder complementation group 7 (PBD-CG7); also known as PBD-CGB. PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum. The PBD group is genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Defects in PEX10 are a cause of Zellweger syndrome (ZWS). ZWS is a fatal peroxisome biogenesis disorder characterized by dysmorphic facial features, hepatomegaly, ocular abnormalities, renal cysts, hearing impairment, profound psychomotor retardation, severe hypotonia and neonatal seizures. Death occurs within the first year of life. Defects in PEX10 are a cause of adrenoleukodystrophy neonatal (NALD). NALD is a peroxisome biogenesis disorder (PBD) characterized by the accumulation of very long- chain fatty acids, adrenal insufficiency and mental retardation. Belongs to the pex2/pex10/pex12 family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Ubiquitin conjugating system; Ubiquitin ligase; EC 6.3.2.-; Ligase
Chromosomal Location of Human Ortholog: 1p36.32
Cellular Component: peroxisome
Molecular Function: protein binding
Biological Process: peroxisome organization and biogenesis; protein import into peroxisome matrix
Disease: Peroxisome Biogenesis Disorder 6a (zellweger); Peroxisome Biogenesis Disorder 6b
Research Articles on PEX10
Similar Products
Product Notes
The PEX10 pex10 (Catalog #AAA1268918) is a cDNA Clone and is intended for research purposes only. The product is available for immediate purchase. The amino acid sequence is listed below: atggccccgg ccgccgccag ccccccggag gtgatccgcg cggcgcagaa ggacgagtac taccgcggtg ggctgcggag cgcggcgggc ggcgccctgc acagcctggc gggtgcgagg aagtggctgg agtggaggaa ggaggttgag ctgctctcag atgtggccta ctttggcctc accacacttg caggctacca gaccctgggg gaggagtacg tcagcatcat ccaggtggac ccatcgcgga tacatgtgcc ctcctcgctg cgccgtggcg tgctggtgac gctgcatgcc gtcctgccct acctgctgga caaggccctg ctccccctgg agcaggagct gcaggctgac cccgacagtg ggcgaccctt gcaggggagc ctggggccag gtgggcgtgg ctgctcaggg gcgcggcgct ggatgcgtca ccacacggcc accctgactg agcagcagag gagggcgctg ctgcgggcgg tcttcgtcct cagacagggc ctcgcctgcc tccagcggct acatgttgcc tggttttaca tccacggtgt cttctaccac ctggccaaga ggctcacggg gatcacgtac caggcgctga ggccagatcc cctcagggtc ctgatgagtg tggcgccatc tgccttacag ctccgtgtcc gcagcctgcc cggagaggac ctgagggccc gtgttagcta caggctgctg ggggtcatct cactgctgca cctggtgctg tccatggggc tgcagctgta cggtttcagg cagcggcagc gagccaggaa ggagtggagg ctgcaccgcg gcctgtctca ccgcagggcc tccttggagg agagagccgt ttccagaaac cccctgtgca ccctgtgcct ggaggagcgc aggcacccaa cagccacgcc ctgcggccac ctgttctgct gggagtgcat caccgcgtgg tgcagcagca aggcggagtg tcccctctgc cgggagaagt tccctcccca gaagctcatc taccttcggc actaccgctg a. It is sometimes possible for the material contained within the vial of "PEX10, cDNA Clone" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
If you are ready to order, navigate to Shopping Cart and get ready to checkout.
