Product Details

Purity

>85% (SDS-PAGE)

Target Names

PEX6

Uniprot No.

Q13608

Alternative Names

PEX6; PXAAA1; Peroxisome assembly factor 2; PAF-2; Peroxin-6; Peroxisomal biogenesis factor 6; Peroxisomal-type ATPase 1

Species

Homo sapiens (Human)

Protein Length

Partial

Tag Info

Tag type will be determined during the manufacturing process.

The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.

Form

Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.

Buffer before Lyophilization

Tris/PBS-based buffer, 6% Trehalose, pH 8.0

Reconstitution

We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.

Troubleshooting and FAQs

Protein FAQs

Storage Condition

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.

Shelf Life

The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.

Lead Time

Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.

Notes

Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.

Datasheet

Please contact us to get it.

Target Background

Function

Involved in peroxisome biosynthesis. Required for stability of the PTS1 receptor. Anchored by PEX26 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes.

Gene References into Functions

A novel homozygous PEX6 p.Ala94Pro mutation. PMID: 29047053
Overexpression models confirmed that the overrepresentation of the pathogenic PEX6 c.2578T variant compared to wild-type PEX6 c.2578C results in a peroxisome biogenesis defect and thus constitutes the cause of disease in the affected individuals. PMID: 29220678
PEX6 identified as the 6p21 SCABD gene in a family with spinocerebellar ataxia with blindness and deafness. PMID: 26669662
Heimler syndrome is due to four novel and two known missense variants and an 8 bp deletion in PEX6 in five families. PMID: 27302843
the current study revealed novel expression quantitative trait loci (eQTLs) for SNHG5 and PEX6 genes in chromosome 6. Nucleotide substitutions of the eQTLs might be candidate factors for a variety of cancers by regulating expression of the 2 genes. PMID: 28033303
PEX6 is expressed in photoreceptor cilia and mutated in deafblindness with enamel dysplasia and microcephaly. PMID: 26593283
Mutations in PEX6 gene is associated with Heimler Syndrome. PMID: 26387595
increased incidence of Zellweger syndrome in French-Canadians of Lac-St-Jean region caused by a PEX6 founder mutation PMID: 22894767
hybrid exercise increases expression of eukaryotic translation initiation factor 5A (EIFSA), peroxisomal biogenesis factor 6 (PEX6) and histone cluster 1 H4 (HIST1H4), compared with electrical stimulation alone PMID: 21778671
We identified a total of 77 different mutations in Zellweger syndrome patients of which 47 mutations have not been reported previously, and 14 polymorphic variants. PMID: 19877282
A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents PMID: 11873320
the relative fraction of disease-causing alleles that occur in the coding and splice junction sequences of PEX6 gene. PMID: 19105186
Leigh syndrome presenting the T8993G mutation in the ATPase 6 gene with variable heteroplasmic loads (44-98%) in a single Tunisian family is a novel finding. PMID: 19433277

Hide All

Involvement in disease

Peroxisome biogenesis disorder complementation group 4 (PBD-CG4); Peroxisome biogenesis disorder 4A (PBD4A); Peroxisome biogenesis disorder 4B (PBD4B); Heimler syndrome 2 (HMLR2)

Subcellular Location

Cytoplasm. Peroxisome membrane. Cell projection, cilium, photoreceptor outer segment.

Protein Families

AAA ATPase family

Tissue Specificity

Expressed in the retina, at higher levels in the photoreceptor layer at the joint between the outer and inner segments.

Database Links

HGNC: 8859

OMIM: 601498

KEGG: hsa:5190

STRING: 9606.ENSP00000303511

UniGene: Hs.656425

Message

Product >> Product Name：
Product >> Code：
Name： *
Email： *
Company/Organization：
Phone：
Since emails may get flagged by spam filters occasionally, we recommend leaving your phone number as a precaution. Your information is safe with us.
Question/Comment： *
Your Region： *
I'd like to receive email newsletters from Cusabio

Yes

No
How do you know CUSABIO?

Email

Distributor

Search engine

Advertisement

Others
CAPTCHA verification：

Code	CSB-YP618793HU
MSDS	MSDS
Size	Pls inquire
Source	Yeast
Have Questions?	Leave a Message or Start an on-line Chat

Code	CSB-EP618793HU
MSDS	MSDS
Size	Pls inquire
Source	E.coli
Have Questions?	Leave a Message or Start an on-line Chat

Code	CSB-EP618793HU-B
MSDS	MSDS
Size	Pls inquire
Source	E.coli
Conjugate	Avi-tag Biotinylated E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
Have Questions?	Leave a Message or Start an on-line Chat

Code	CSB-BP618793HU
MSDS	MSDS
Size	Pls inquire
Source	Baculovirus
Have Questions?	Leave a Message or Start an on-line Chat

Code	CSB-MP618793HU
MSDS	MSDS
Size	Pls inquire
Source	Mammalian cell
Have Questions?	Leave a Message or Start an on-line Chat

Recombinant Human Peroxisome assembly factor 2 (PEX6), partial

Product Details

Customer Reviews and Q&A

Target Background

×CloseMessage