Recombinant Human Alpha- and gamma-adaptin-binding protein p34 (AAGAB)

Code CSB-YP747468HU
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Source Yeast
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Code CSB-EP747468HU
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Source E.coli
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Code CSB-EP747468HU-B
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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-BP747468HU
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Source Baculovirus
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Code CSB-MP747468HU
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Source Mammalian cell
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Product Details

Purity
>85% (SDS-PAGE)
Target Names
AAGAB
Uniprot No.
Alternative Names
AAGAB; AAGAB_HUMAN; Alpha and gamma adaptin binding protein p34; Alpha- and gamma-adaptin-binding protein p34; LOC79719
Species
Homo sapiens (Human)
Expression Region
1-315
Target Protein Sequence
MAAGVPCALV TSCSSVFSGD QLVQHILGTE DLIVEVTSND AVRFYPWTID NKYYSADINL CVVPNKFLVT AEIAESVQAF VVYFDSTQKS GLDSVSSWLP LAKAWLPEVM ILVCDRVSED GINRQKAQEW CIKHGFELVE LSPEELPEED DDFPESTGVK RIVQALNANV WSNVVMKNDR NQGFSLLNSL TGTNHSIGSA DPCHPEQPHL PAADSTESLS DHRGGASNTT DAQVDSIVDP MLDLDIQELA SLTTGGGDVE NFERLFSKLK EMKDKAATLP HEQRKVHAEK VAKAFWMAIG GDRDEIEGLS SDEEH
Protein Length
full length protein
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.

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Target Background

Function
May be involved in endocytic recycling of growth factor receptors such as EGFR.
Gene References into Functions
  1. Identical AAGAB genotypes presented a very broad interfamilial and intrafamilial variability of phenotypes in punctate palmoplantar keratoderma type 1 (Buschke-Fischer-Brauer syndrome). PMID: 26608363
  2. we report two unrelated Japanese punctate palmoplantar keratoderma type 1 pedigrees harboring the novel AAGAB mutation c.191_194del-CAAA. PMID: 25771163
  3. Case Report: novel AAGAB mutation in punctate palmoplantar keratoderma type I. PMID: 24573067
  4. results reveal one novel and two recurrent mutations in AAGAB providing further evidence of its role in the pathogenesis of palmoplantar keratoderma. PMID: 24588319
  5. case Report: deletion mutation in AAGAB causing punctate palmoplantar keratoderma in Chinese family. PMID: 24162853
  6. This observation suggests either the existence of a CDH-associated gene in the vicinity of AAGAB, or a hitherto unrecognized role for p34 during skeletal development. PMID: 24289292
  7. families with type 1 punctate palmoplantar keratoderma have distinct mutations in AAGAB PMID: 24390136
  8. Results identify novel loss-of-function mutation within AAGAB associated with PPPK was identified from two Chinese pedigrees. PMID: 23448244
  9. analysis of the AAGAB genotype in 12 Punctate palmoplantar keratoderma (PPKP1) patients from 6 independent kindreds of Scottish, English, and Mexican ancestry PMID: 23743648
  10. We identified six mutations in the AAGAB gene in Chinese punctate palmoplantar keratoderma patients. PMID: 23633024
  11. We report the characteristics of a heterozygous AAGAB splice-site mutation in primary keratinocytes. PMID: 23563198
  12. Identification of two heterozygous nonsense mutations-c.370C>T (p.Arg124) and c.481C>T (p.Arg161)-in AAGAB in patients with punctate palmoplantar keratoderma type Buschke-Fischer-Brauer. PMID: 23000146
  13. We hypothesize that AAGAB (p34) deficiency may impair endocytic recycling of growth factor receptors such as EGFR, leading to increased signaling and cellular proliferation PMID: 23064416

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Involvement in disease
Keratoderma, palmoplantar, punctate 1A (PPKP1A)
Subcellular Location
Cytoplasm, cytosol.
Tissue Specificity
Widely expressed, including in skin and keratinocytes, with highest levels in adrenal gland, rectum and thymus.
Database Links

HGNC: 25662

OMIM: 148600

KEGG: hsa:79719

STRING: 9606.ENSP00000261880

UniGene: Hs.254642

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