Recombinant Human Patched domain-containing protein 1 (PTCHD1), partial

Code CSB-YP839383HU
MSDS
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Source Yeast
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Code CSB-EP839383HU
MSDS
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Source E.coli
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Code CSB-EP839383HU-B
MSDS
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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.
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Code CSB-BP839383HU
MSDS
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Source Baculovirus
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Code CSB-MP839383HU
MSDS
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Source Mammalian cell
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Product Details

Purity
>85% (SDS-PAGE)
Target Names
PTCHD1
Uniprot No.
Alternative Names
9630036J22Rik; AI848149; FLJ30296; Gm387; MGC149798; Patched domain containing 1; Patched domain-containing protein 1; PTCHD1; PTHD1_HUMAN; RGD1564527; RP23-152D15.3
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
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.

Customer Reviews and Q&A

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Target Background

Function
Required for the development and function of the thalamic reticular nucleus (TRN), a part of the thalamus that is critical for thalamocortical transmission, generation of sleep rhythms, sensorimotor processing and attention.
Gene References into Functions
  1. both common and rare PTCHD1 variants contribute to autism spectrum disorder. PMID: 25782667
  2. Our findings suggest that hemizygous PTCHD1 loss of function causes an X-linked neurodevelopmental disorder with a strong propensity to autistic behaviors. PMID: 25131214
  3. Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism. PMID: 21091464
  4. Systematic screen of PTCHD1 and its 5' flanking regions suggests that this locus is involved in ~1% of individuals with autism spectrum disorder and intellectual disability. PMID: 20844286
Involvement in disease
Autism, X-linked 4 (AUTSX4)
Subcellular Location
Cell membrane; Multi-pass membrane protein.
Protein Families
Patched family
Tissue Specificity
Widely expressed, including in various regions of the brain with highest expression in the gray and white cerebellum, followed by the cerebellar vermis and the pituitary gland.
Database Links

HGNC: 26392

OMIM: 300828

KEGG: hsa:139411

STRING: 9606.ENSP00000368666

UniGene: Hs.319503

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